Topic: Congenital

Abstract

Improved Outcomes of Heart Transplantation in Adults With Congenital Heart Disease Receiving Regionalized Care.

Nguyen VP, Dolgner SJ, Dardas TF, Verrier ED, McMullan DM, Krieger EV
Background
The number of adult congenital heart disease (CHD) patients undergoing heart transplantation is increasing rapidly. CHD patients have higher surgical risk at transplantation. High-volume adult CHD transplant centers may have better transplant outcomes.
Objectives
This study aimed to evaluate the effect of center CHD transplant volume and expertise on transplant outcomes in CHD patients.
Methods
The authors studied heart transplantations in CHD patients age ≥18 years using the United Network of Organ Sharing (UNOS) database for the primary outcomes of waitlist mortality and post-transplant outcomes at 30 days and 1 year. Transplant centers were assessed by status as the highest CHD transplant volume center in a UNOS region versus all others, presence of Adult Congenital Heart Association accreditation, and adult versus pediatric hospital designation.
Results
Between January of 2000 and June of 2018, 1,746 adult CHD patients were listed for transplant; 1,006 (57.6%) of these underwent heart transplantation. After adjusting for age, sex, listing status, and inotrope requirement, waitlist mortality risk was lower at Adult Congenital Heart Association accredited centers (hazard ratio: 0.730; p = 0.020). Post-transplant 30-day mortality was lower at the highest volume CHD transplant center in each UNOS region (hazard ratio: 0.706; p = 0.014).
Conclusions
Designated expertise in CHD care is associated with improved waitlist outcomes for CHD patients listed for transplantation. Post-transplant survival was improved at the highest volume regional center. These findings suggest a possible advantage of regionalization of CHD transplantation.

Copyright © 2019 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

J Am Coll Cardiol: 09 Dec 2019; 74:2908-2918
Nguyen VP, Dolgner SJ, Dardas TF, Verrier ED, McMullan DM, Krieger EV
J Am Coll Cardiol: 09 Dec 2019; 74:2908-2918 | PMID: 31806135
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Abstract

Stem Cell-Derived Cardiomyocytes and Beta-Adrenergic Receptor Blockade in Duchenne Muscular Dystrophy Cardiomyopathy.

Kamdar F, Das S, Gong W, Klaassen Kamdar A, ... Zhang J, Garry DJ
Background
Although cardiomyopathy has emerged as a leading cause of death in Duchenne muscular dystrophy (DMD), limited studies and therapies have emerged for dystrophic heart failure.
Objectives
The purpose of this study was to model DMD cardiomyopathy using DMD patient-specific human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes and to identify physiological changes and future drug therapies.
Methods
To explore and define therapies for DMD cardiomyopathy, the authors used DMD patient-specific hiPSC-derived cardiomyocytes to examine the physiological response to adrenergic agonists and β-blocker treatment. The authors further examined these agents in vivo using wild-type and mdx mouse models.
Results
At baseline and following adrenergic stimulation, DMD hiPSC-derived cardiomyocytes had a significant increase in arrhythmic calcium traces compared to isogenic controls. Furthermore, these arrhythmias were significantly decreased with propranolol treatment. Using telemetry monitoring, the authors observed that mdx mice, which lack dystrophin, had an arrhythmic death when stimulated with isoproterenol; the lethal arrhythmias were rescued, in part, by propranolol pre-treatment. Using single-cell and bulk RNA sequencing (RNA-seq), the authors compared DMD and control hiPSC-derived cardiomyocytes, mdx mice, and control mice (in the presence or absence of propranolol and isoproterenol) and defined pathways that were perturbed under baseline conditions and pathways that were normalized after propranolol treatment in the mdx model. The authors also undertook transcriptome analysis of human DMD left ventricle samples and found that DMD hiPSC-derived cardiomyocytes have dysregulated pathways similar to the human DMD heart. The authors further determined that relatively few patients with DMD see a cardiovascular specialist or receive β-blocker therapy.
Conclusions
The results highlight mechanisms and therapeutic interventions from human to animal and back to human in the dystrophic heart. These results may serve as a prelude for an adequately powered clinical study that examines the impact of β-blocker therapy in patients with dystrophinopathies.

Copyright © 2020 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

J Am Coll Cardiol: 16 Mar 2020; 75:1159-1174
Kamdar F, Das S, Gong W, Klaassen Kamdar A, ... Zhang J, Garry DJ
J Am Coll Cardiol: 16 Mar 2020; 75:1159-1174 | PMID: 32164890
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Abstract

Tricuspid Intervention Following Pulmonary Valve Replacement in Adults With Congenital Heart Disease.

Deshaies C, Trottier H, Khairy P, Al-Aklabi M, ... Poirier NC,
Background
Tricuspid regurgitation (TR) is common among adults with corrected tetralogy of Fallot (TOF) or pulmonary stenosis (PS) referred for pulmonary valve replacement (PVR). Yet, combined valve surgery remains controversial.
Objectives
This study sought to evaluate the impact of concomitant tricuspid valve intervention (TVI) on post-operative TR, length of hospital stay, and on a composite endpoint consisting of 7 early adverse events (death, reintervention, cardiac electronic device implantation, infection, thromboembolic event, hemodialysis, and readmission).
Methods
The national Canadian cohort enrolled 542 patients with TOF or PS and mild to severe TR who underwent isolated PVR (66.8%) or PVR+TVI (33.2%). Outcomes were abstracted from charts and compared between groups using multivariable logistic and negative binomial regression.
Results
Median age at reintervention was 35.3 years. Regardless of surgery type, TR decreased by at least 1 echocardiographic grade in 35.4%, 66.9%, and 92.8% of patients with pre-operative mild, moderate, and severe insufficiency. In multivariable analyses, PVR+TVI was associated with an additional 2.3-fold reduction in TR grade (odds ratio [OR]: 0.44; 95% confidence interval [CI]: 0.25 to 0.77) without an increase in early adverse events (OR: 0.85; 95% CI: 0.46 to 1.57) or hospitalization time (incidence rate ratio: 1.17; 95% CI: 0.93 to 1.46). Pre-operative TR severity and presence of transvalvular leads independently predicted post-operative TR. In contrast, early adverse events were strongly associated with atrial tachyarrhythmia, extracardiac arteriopathy, and a high body mass index.
Conclusions
In patients with TOF or PS and significant TR, concomitant TVI is safe and results in better early tricuspid valve competence than isolated PVR.

Copyright © 2020 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

J Am Coll Cardiol: 09 Mar 2020; 75:1033-1043
Deshaies C, Trottier H, Khairy P, Al-Aklabi M, ... Poirier NC,
J Am Coll Cardiol: 09 Mar 2020; 75:1033-1043 | PMID: 32138963
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Abstract

Inherited Thoracic Aortic Disease: New Insights and Translational Targets.

Fletcher AJ, Syed MBJ, Aitman TJ, Newby DE, Walker NL

Inherited thoracic aortopathies denote a group of congenital conditions that predispose to disease of the thoracic aorta. Aortic wall weakness and abnormal aortic hemodynamic profiles predispose these patients to dilatation of the thoracic aorta, which is generally silent but can precipitate aortic dissection or rupture with devastating and often fatal consequences. Current strategies to assess the future risk of aortic dissection or rupture are based primarily on monitoring aortic diameter. However, diameter alone is a poor predictor of risk, with many patients experiencing dissection or rupture below current intervention thresholds. Developing tools that improve the risk assessment of those with aortopathy is internationally regarded as a research priority. A robust understanding of the molecular pathways that lead to aortic wall weakness is required to identify biomarkers and therapeutic targets that could improve patient management. Here, we summarize the current understanding of the genetically determined mechanisms underlying inherited aortopathies and critically appraise the available blood biomarkers, imaging techniques, and therapeutic targets that have shown promise for improving the management of patients with these important and potentially fatal conditions.



Circulation: 11 May 2020; 141:1570-1587
Fletcher AJ, Syed MBJ, Aitman TJ, Newby DE, Walker NL
Circulation: 11 May 2020; 141:1570-1587 | PMID: 32392100
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Abstract

Oral fluconazole use in the first trimester and risk of congenital malformations: population based cohort study.

Zhu Y, Bateman BT, Gray KJ, Hernandez-Diaz S, ... Straub L, Huybrechts KF
Objective
To examine the risk of congenital malformations associated with exposure to oral fluconazole at commonly used doses in the first trimester of pregnancy for the treatment of vulvovaginal candidiasis.
Design
Population based cohort study.
Setting
A cohort of pregnancies publicly insured in the United States, with data from the nationwide Medicaid Analytic eXtract 2000-14.
Participants
Pregnancies of women enrolled in Medicaid from three or more months before the last menstrual period to one month after delivery, and infants enrolled for three or more months after birth.
Interventions
Use of fluconazole and topical azoles was established by requiring one or more prescriptions during the first trimester of pregnancy.
Main outcome measures
Risk of musculoskeletal malformations, conotruncal malformations, and oral clefts (primary outcomes), associated with exposure to oral fluconazole, diagnosed during the first 90 days after delivery, were examined.
Results
The study cohort of 1 969 954 pregnancies included 37 650 (1.9%) pregnancies exposed to oral fluconazole and 82 090 (4.2%) pregnancies exposed to topical azoles during the first trimester. The risk of musculoskeletal malformations was 52.1 (95% confidence interval 44.8 to 59.3) per 10 000 pregnancies exposed to fluconazole versus 37.3 (33.1 to 41.4) per 10 000 pregnancies exposed to topical azoles. The risks of conotruncal malformations were 9.6 (6.4 to 12.7) versus 8.3 (6.3 to 10.3) per 10 000 pregnancies exposed to fluconazole and topical azoles, respectively; risks of oral clefts were 9.3 (6.2 to 12.4) versus 10.6 (8.4 to 12.8) per 10 000 pregnancies, respectively. The adjusted relative risk after fine stratification of the propensity score was 1.30 (1.09 to 1.56) for musculoskeletal malformations, 1.04 (0.70 to 1.55) for conotruncal malformations, and 0.91 (0.61 to 1.35) for oral clefts overall. Based on cumulative doses of fluconazole, the adjusted relative risks for musculoskeletal malformations, conotruncal malformations, and oral clefts overall were 1.29 (1.05 to 1.58), 1.12 (0.71 to 1.77), and 0.88 (0.55 to 1.40) for 150 mg of fluconazole; 1.24 (0.93 to 1.66), 0.61 (0.26 to 1.39), and 1.08 (0.58 to 2.04) for more than 150 mg up to 450 mg of fluconazole; and 1.98 (1.23 to 3.17), 2.30 (0.93 to 5.65), and 0.94 (0.23 to 3.82) for more than 450 mg of fluconazole, respectively.
Conclusions
Oral fluconazole use in the first trimester was not associated with oral clefts or conotruncal malformations, but an association with musculoskeletal malformations was found, corresponding to a small adjusted risk difference of about 12 incidents per 10 000 exposed pregnancies overall.

© Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

BMJ: 19 May 2020; 369:m1494
Zhu Y, Bateman BT, Gray KJ, Hernandez-Diaz S, ... Straub L, Huybrechts KF
BMJ: 19 May 2020; 369:m1494 | PMID: 32434758
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Abstract

Epigenetic Modulation in the Initiation and Progression of Pulmonary Hypertension.

Cheng X, Wang Y, Du L

Pulmonary hypertension (PH) is a severe disease with multiple etiologies. In addition to genetics, recent studies have revealed the epigenetic modulation in the initiation and progression of PH. In this review, we summarize the epigenetic mechanisms in the pathogenesis of PH, specifically, DNA methylation, histone modifications, and microRNAs. We further emphasize the diagnostic and therapeutic potential of these epigenetic hallmarks in PH. Finally, we highlight the developmental reprogramming in adult-onset PH because of adverse perinatal exposures such as intrauterine growth restriction and extrauterine growth restriction. Therefore, epigenetic modifications provide promise for the therapy and prevention of PH.



Hypertension: 29 Sep 2019; 74:733-739
Cheng X, Wang Y, Du L
Hypertension: 29 Sep 2019; 74:733-739 | PMID: 31476913
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Abstract

COVID-19 in Adults With Congenital Heart Disease.

Broberg CS, Kovacs AH, Sadeghi S, Rosenbaum MS, ... Cotts TB, Aboulhosn JA
Background
Adults with congenital heart disease (CHD) have been considered potentially high risk for novel coronavirus disease-19 (COVID-19) mortality or other complications.
Objectives
This study sought to define the impact of COVID-19 in adults with CHD and to identify risk factors associated with adverse outcomes.
Methods
Adults (age 18 years or older) with CHD and with confirmed or clinically suspected COVID-19 were included from CHD centers worldwide. Data collection included anatomic diagnosis and subsequent interventions, comorbidities, medications, echocardiographic findings, presenting symptoms, course of illness, and outcomes. Predictors of death or severe infection were determined.
Results
From 58 adult CHD centers, the study included 1,044 infected patients (age: 35.1 ± 13.0 years; range 18 to 86 years; 51% women), 87% of whom had laboratory-confirmed coronavirus infection. The cohort included 118 (11%) patients with single ventricle and/or Fontan physiology, 87 (8%) patients with cyanosis, and 73 (7%) patients with pulmonary hypertension. There were 24 COVID-related deaths (case/fatality: 2.3%; 95% confidence interval: 1.4% to 3.2%). Factors associated with death included male sex, diabetes, cyanosis, pulmonary hypertension, renal insufficiency, and previous hospital admission for heart failure. Worse physiological stage was associated with mortality (p = 0.001), whereas anatomic complexity or defect group were not.
Conclusions
COVID-19 mortality in adults with CHD is commensurate with the general population. The most vulnerable patients are those with worse physiological stage, such as cyanosis and pulmonary hypertension, whereas anatomic complexity does not appear to predict infection severity.

Copyright © 2021 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

J Am Coll Cardiol: 05 Jan 2021; 77:1644-1655
Broberg CS, Kovacs AH, Sadeghi S, Rosenbaum MS, ... Cotts TB, Aboulhosn JA
J Am Coll Cardiol: 05 Jan 2021; 77:1644-1655 | PMID: 33795039
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Abstract

Beyond the One Gene-One Disease Paradigm: Complex Genetics and Pleiotropy in Inheritable Cardiac Disorders

Cerrone M, Remme CA, Tadros R, Bezzina CR, Delmar M

Inheritable cardiac disorders, which may be associated with cardiomyopathic changes, are often associated with increased risk of sudden death in the young. Early linkage analysis studies in Mendelian forms of these diseases, such as hypertrophic cardiomyopathy and long-QT syndrome, uncovered large-effect genetic variants that contribute to the phenotype. In more recent years, through genotype-phenotype studies and methodological advances in genetics, it has become evident that most inheritable cardiac disorders are not monogenic but, rather, have a complex genetic basis wherein multiple genetic variants contribute (oligogenic or polygenic inheritance). Conversely, studies on genes underlying these disorders uncovered pleiotropic effects, with a single gene affecting multiple and apparently unrelated phenotypes. In this review, we explore these 2 phenomena: on the one hand, the evidence that variants in multiple genes converge to generate one clinical phenotype, and, on the other, the evidence that variants in one gene can lead to apparently unrelated phenotypes. Although multiple conditions are addressed to illustrate these concepts, the experience obtained in the study of long-QT syndrome, Brugada syndrome, and arrhythmogenic cardiomyopathy, and in the study of functions related to SCN5A (the gene coding for the α-subunit of the most abundant sodium channel in the heart) and PKP2 (the gene coding for the desmosomal protein plakophilin-2), as well, is discussed in more detail.



Circulation: 12 Jan 2019; 140:595-610
Cerrone M, Remme CA, Tadros R, Bezzina CR, Delmar M
Circulation: 12 Jan 2019; 140:595-610 | PMID: 31403841
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Abstract

Massive Cardiomegaly (>1000 g Heart) and Obesity.

Roberts WC, Khan OS

Described herein are certain clinical and morphologic findings in 9 patients who at necropsy had hearts weighing >1000 g, a weight approximately 3 times normal. With the exception of 2 patients with hypertrophic cardiomyopathy, the common finding in the remaining 7 patients was obesity. None had valvular heart disease, the previously described major cause of massive cardiomegaly. Thus, obesity needs to be added to the causes of massive cardiomegaly, a cause not previously recognized. Electrocardiograms in 4 patients disclosed high total 12-lead QRS voltage on the electrocardiogram in only one despite the massive cardiomegaly.

Copyright © 2019 Elsevier Inc. All rights reserved.

Am J Cardiol: 14 Jan 2020; 125:277-281
Roberts WC, Khan OS
Am J Cardiol: 14 Jan 2020; 125:277-281 | PMID: 31847959
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Abstract

Paradigm of Sudden Death Prevention in Hypertrophic Cardiomyopathy.

Maron BJ, Rowin EJ, Maron MS

Hypertrophic cardiomyopathy (HCM) is a worldwide genetic heart disease and a common cause of sudden death in the young. Penetration of the implantable cardioverter-defibrillator (ICD) into this patient population over the past 20 years has made accurate selection of patients for primary prevention ICDs a priority. Consequently, a new paradigm has emerged in the management of this complex disease with ICD therapy responsible for a substantial decrease in overall HCM-related mortality (to 0.5%/y) and independent of patient age. Selection of candidates for ICDs has matured substantially with the formulation of an enhanced risk stratification algorithm. One or more contemporary risk markers judged major within a given patient\'s clinical profile, in association with physician judgment and shared decision-making, is sufficient to consider a primary prevention ICD implant. An enhanced American College of Cardiology/American Heart Association risk factor model (including new contrast-magnetic resonance-based markers, such as left ventricular apical aneurysm) used prospectively to make ICD decisions proved to be 95% sensitive for identifying patients who would experience ≥1 appropriate device therapies terminating ventricular tachycardia/fibrillation. The number of HCM patients required to treat with ICDs to save 1 patient with abolition of lethal ventricular tachyarrhythmias was 6:1, similar to randomized defibrillator trials in other cardiomyopathies. In contrast to patients with ischemic heart disease, after ICD shock HCM patients rarely experience transformation to heart failure deterioration or sudden arrhythmic death. The mathematically derived risk score model proposed by the European Society of Cardiology was inferior for identifying high-risk patients susceptible to arrhythmic sudden death with a sensitivity of only 33%, leaving many patients exposed to the possibility of sudden death without ICDs. In conclusion, introduction of the ICD associated with a matured risk stratification algorithm has altered management strategy and clinical course of many HCM patients, making the likelihood of sudden death prevention a reality and fulfilling the aspiration of preservation of life and reduced mortality for this vulnerable patient population.



Circ Res: 01 Jan 2019; 125:370-378
Maron BJ, Rowin EJ, Maron MS
Circ Res: 01 Jan 2019; 125:370-378 | PMID: 31518168
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Abstract

Usefulness of Neuromuscular Co-morbidity, Left Bundle Branch Block, and Atrial Fibrillation to Predict the Long-Term Prognosis of Left Ventricular Hypertrabeculation/Noncompaction.

Stöllberger C, Hasun M, Winkler-Dworak M, Finsterer J

The prognosis of patients with left ventricular hypertrabeculation/noncompaction (LVHT) is assessed controversially. LVHT is associated with other cardiac abnormalities and with neuromuscular disorders (NMD). Aim of the study was to assess cardiac and neurological findings as predictors of mortality rate in adult LVHT-patients. Included were patients with LVHT diagnosed between 1995 and 2019 in 1 echocardiographic laboratory. Patients underwent a baseline cardiologic examination and were invited for a neurological investigation. In January 2020, their survival status was assessed. End points were death or heart transplantation. LVHT was diagnosed by echocardiography in 310 patients (93 female, aged 53 ± 18 years) with a prevalence of 0.4%/year. A neurologic investigation was performed in 205 patients (67%). A specific NMD was found in 33 (16%), NMD of unknown etiology in 123 (60%) and the neurological investigation was normal in 49 (24%) patients. During follow-up of 84 ± 71 months, 59 patients received electronic devices, 105 patients died, and 6 underwent heart transplantation. The mortality was 4.7%/year, the rate of heart transplantation/death 5%/year. By multivariate analysis, the following parameters were identified to elevate the risk of mortality/heart transplantation: increased age (p = 0.005), inpatient (p = 0.001), presence of a specific NMD (p = 0.0312) or NMD of unknown etiology (p = 0.0365), atrial fibrillation (p = 0.0000), ventricular premature complexes (p = 0.0053), exertional dyspnea (p = 0.0023), left bundle branch block (p = 0.0201), and LVHT of the posterior wall (p = 0.0158). In conclusion, LVHT patients should be systematically investigated neurologically since neurological co-morbidity has a prognostic impact.

Copyright © 2020 Elsevier Inc. All rights reserved.

Am J Cardiol: 31 Jul 2020; 128:168-173
Stöllberger C, Hasun M, Winkler-Dworak M, Finsterer J
Am J Cardiol: 31 Jul 2020; 128:168-173 | PMID: 32650915
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Abstract

Atrial Septal Defect and the Risk of Ischemic Stroke in the Perioperative Period of Noncardiac Surgery.

Smilowitz NR, Subashchandran V, Berger JS

Stroke is a serious complication of noncardiac surgery. Congenital defects of the interatrial septum may be a potent risk factor for perioperative stroke. The aim of the present study was to determine the association between atrial septal defect (ASD) or patent foramen ovale (PFO) and in-hospital perioperative ischemic stroke after non-cardiac surgery in a large nationwide cohort of patients hospitalized in the United States. Patients undergoing noncardiac surgery between 2004 and 2014 were identified using the Healthcare Cost and Utilization Project\'s National Inpatient Sample. Patients without an in-hospital echocardiogram were excluded. The presence of an ostium secundum-type ASD or PFO was identified by ICD-9 diagnosis code 745.5. The primary study outcome was perioperative acute ischemic stroke. Between 2004 and 2014, there were 639,985 admissions for noncardiac surgery with an in-hospital echocardiogram. An ASD or PFO was documented in 9,041 (1.4%) hospitalizations. Perioperative ischemic stroke occurred more frequently in patients with an ASD or PFO compared with those without an ASD or PFO (35.1% vs 6.0%, p <0.001). The association between ASD or PFO and ischemic stroke persisted after adjustment for demographics and clinical covariates (adjusted odds ratio 6.30, 95% confidence interval, 5.59 to 7.10) and in all non-cardiac surgery subtypes. In conclusion, in a large, nationwide analysis of patients undergoing noncardiac surgery, a diagnosis of ASD or PFO was associated with an increased risk of acute ischemic stroke overall and in all surgical subtypes. Additional measures are necessary to mitigate stroke risk in patients with septal defects who are planned for non-cardiac surgery.

Published by Elsevier Inc.

Am J Cardiol: 30 Sep 2019; 124:1120-1124
Smilowitz NR, Subashchandran V, Berger JS
Am J Cardiol: 30 Sep 2019; 124:1120-1124 | PMID: 31375244
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Abstract

Initial experiences with a novel biodegradable device for percutaneous closure of atrial septal defects: From preclinical study to first-in-human experience.

Li YF, Xie YM, Chen J, Li BN, ... Wang SS, Zhang ZW
Objective
To evaluate the feasibility, safety, and effectiveness of a novel, absorbable atrial septal defect (ASD) closure device made of poly-l-lactic acid (PLLA) in a swine model of ASD and for the first time in humans.
Methods
A preclinical safety study was conducted using a swine model of ASD. In a clinical setting, five pediatric patients underwent ASD closure with the PLLA device with fluoroscopic and transthoracic echocardiography guidance. The procedural results and clinical outcomes at 1 day, 30 days, 3 months, and 6 months after closure were analyzed.
Results
The 24- and 36-month follow-up results of the preclinical study demonstrated that the PLLA device exhibited good endothelialization and degradability in the swine model. In the clinical study, successful device implantation was achieved in all five patients (median age, 3.6 years; range, 3.1-6.5 years). The mean defect size was (13.6 ± 2.7) mm. Follow-up at 30 days, 3 months, and 6 months was completed in all five cases. The complete defect closure rates with no residual shunt at 30 days, 3 months, and 6 months follow-up were 60% (3/5), 80% (4/5), and 80% (4/5), respectively. No device dislodgement, significant aortic valve or mitral valve regurgitation, new onset cardiac arrhythmia, or other adverse events were reported.
Conclusion
The study results demonstrated that it is feasible to implant the PLLA device for closure of small to medium sized ASDs without significant residual shunts or severe adverse events in humans. The PLLA device exhibited good endothelialization and degradability in the swine model at 24 and 36 months. Further studies to evaluate long-term safety and effectiveness with the device in a large cohort of patients are warranted.

© 2019 The Authors. Catheterization and Cardiovascular Interventions published by Wiley Periodicals, Inc.

Catheter Cardiovasc Interv: 11 Nov 2019; epub ahead of print
Li YF, Xie YM, Chen J, Li BN, ... Wang SS, Zhang ZW
Catheter Cardiovasc Interv: 11 Nov 2019; epub ahead of print | PMID: 31714687
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Abstract

A 3-Year-Old Girl With a Mediastinal Mass.

Wentink M, Peeters D, van der Burg M, Vermont C, Duijts L, Driessen GJ
A 3-year-old girl was referred to a pediatric pulmonologist for dyspnea and recurrent upper respiratory tract infections (RTIs). The patient was born full term to unrelated Dutch parents after an uneventful pregnancy and birth. The year before presentation, she had suffered from pneumonia and > 10 upper RTIs. Apart from the recurrent RTIs, which started in infancy, her medical history was not significant and did not include allergies or eczema. An adenotonsillectomy was performed at the age of 2 years, and she was treated with multiple antibiotic regimens and inhalation therapy with salbutamol and corticosteroids, with no relief of symptoms.

Chest: 30 Dec 2018; 155:e13-e16
Wentink M, Peeters D, van der Burg M, Vermont C, Duijts L, Driessen GJ
Chest: 30 Dec 2018; 155:e13-e16 | PMID: 30616742
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Abstract

Long-Term Survival of Patients With Coarctation Repaired During Infancy (from the Pediatric Cardiac Care Consortium).

Oster ME, McCracken C, Kiener A, Aylward B, ... Hunting J, Kochilas LK

Patients who undergo coarctation repair during infancy have excellent early survival but long-term survival is unknown. We aimed to describe the long-term survival of patients with coarctation repaired during infancy and determine predictors of mortality. We performed a retrospective cohort study using data from the Pediatric Cardiac Care Consortium for patients with coarctation who underwent surgical repair before 12 months of age between 1982 and 2003. Long-term transplant-free survival was obtained by linkage with the National Death Index and the Organ Sharing Procurement Network. Kaplan Meier survival plots were constructed, and univariate and multivariable analyses were performed to determine predictors of mortality. We identified 2,424 coarctation patients who met inclusion criteria. At 20 years postoperatively, 94.5% of all patients and 95.8% of those discharged after initial operation remained alive, respectively. Significant multivariable predictors of mortality included surgical weight <2.5 kg (hazard ratio [HR] 3.70, 95% confidence interval [CI] 2.19 to 6.24), presence of a genetic syndrome (HR 2.40, 95% CI 1.13 to 5.10), and repair before 1990 (HR 1.91, 95% CI 1.09 to 3.34). None of the other factors examined including age at repair, gender, coarctation type, or surgical approach were found to be statistically significant. Over half of the deaths were due to the underlying congenital heart disease or other cardiovascular etiology. Overall long-term survival of patients who undergo coarctation repair during infancy is excellent. However, patients do experience small continued survival attrition throughout early adulthood. Ongoing monitoring of this cohort is necessary to assess late mortality risk.

Copyright © 2019 Elsevier Inc. All rights reserved.

Am J Cardiol: 31 Aug 2019; 124:795-802
Oster ME, McCracken C, Kiener A, Aylward B, ... Hunting J, Kochilas LK
Am J Cardiol: 31 Aug 2019; 124:795-802 | PMID: 31272703
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Abstract

Impact of Right Ventricular Geometry and Left Ventricular Hypertrophy on Right Ventricular Mechanics and Clinical Outcomes in Hypoplastic Left Heart Syndrome.

Rösner A, Bharucha T, James A, Mertens L, Friedberg MK
Background
Right ventricular (RV) function is a major determinant of survival in hypoplastic left heart syndrome (HLHS). However, the relation of RV geometry to myocardial mechanics and their relation to transplant-free survival are incompletely characterized.
Methods
We retrospectively studied 48 HLHS patients from the Hospital for Sick Children, Toronto, (median age, 2.2; interquartile range, 3.62 years) at different surgical stages. Patients were grouped by the presence (n = 23) or absence (n = 25) of RV \"apical bulging\" defined as a sigmoid-shaped septum with the RV leftward apical segment contiguous with the left ventricular (LV) lateral wall. Regional and global RV strain were measured using speckle-tracking echocardiography, and regional strains were analyzed for patterns and peak values. These were compared between HLHS anatomical subtypes and between patients with versus without apical bulging. We further investigated the association between RV geometry and dysfunction with the outcomes of heart failure, death, or transplant.
Results
RV global (-7.3% ± 2.8% vs -11.2% ± 4.4%; P = .001), basal septal (-3.8% ± 3.2% vs -11.4% ± 5.8%; P = .0001) and apicolateral (-5.1% ± 3.5% vs -8.0% ± 5.8%, P = .001) longitudinal strain were lower in patients with versus without apical bulging, respectively. Apical bulging was equally prevalent in all HLHS anatomical variants. Twenty of 22 (91%) patients with apical bulging displayed hypertrophy of the LV apical and lateral segments. Death or transplantation were approximately equal in both groups but related to reduced RV global strain in patients with (seven of seven) and not in those without apical bulging (two of eight; P = .022).
Conclusions
These results suggest that the finding of apical bulging is related to the presence of a hypertrophied hypoplastic LV, with a negative impact on regional and global RV function. Therefore, analysis of RV and LV geometry and mechanics may aid in the assessment and prognostication of this high-risk population.

Copyright © 2019 American Society of Echocardiography. All rights reserved.

J Am Soc Echocardiogr: 29 Sep 2019; 32:1350-1358
Rösner A, Bharucha T, James A, Mertens L, Friedberg MK
J Am Soc Echocardiogr: 29 Sep 2019; 32:1350-1358 | PMID: 31351794
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Abstract

Electrocardiogram Standards for Children and Young Adults Using -Scores.

Bratincsák A, Kimata C, Limm-Chan BN, Vincent KP, Williams MR, Perry JC
Background
Normative ECG values for children are based on relatively few subjects and are not standardized, resulting in interpersonal variability of interpretation. Recent advances in digital technology allow a more quantitative, reproducible assessment of ECG variables. Our objective was to create the foundation of normative ECG standards in the young utilizing Z-scores.
Methods
One hundred two ECG variables were collected from a retrospective cohort of 27 085 study subjects with no known heart condition, ages 0 to 39 years. The cohort was divided into 16 age groups by sex. Median, interquartile range, and range were calculated for each variable adjusted to body surface area.
Results
Normative standards were developed for all 102 ECG variables including heart rate; P, R, and T axis; R-T axis deviation; PR interval, QRS duration, QT, and QTc interval; P, Q, R, S, and T amplitudes in 12 leads; as well as QRS and T wave integrals. Incremental Z-score values between -2.5 and 2.5 were calculated to establish upper and lower limits of normal. Historical ECG interpretative concepts were reassessed and new concepts observed.
Conclusions
Electronically acquired ECG values based on the largest pediatric and young adult cohort ever compiled provide the first detailed, standardized, quantitative foundation of traditional and novel ECG variables. Expression of ECG variables by Z-scores lends an objective and reproducible evaluation without interpreter bias that can lead to more confident establishment of ECG-disease correlations and improved automated ECG readings in high-volume cardiac screening efforts in the young. Graphic Abstract: A graphic abstract is available for this article.



Circ Arrhythm Electrophysiol: 30 Dec 2019; 13:e008253
Bratincsák A, Kimata C, Limm-Chan BN, Vincent KP, Williams MR, Perry JC
Circ Arrhythm Electrophysiol: 30 Dec 2019; 13:e008253 | PMID: 32634327
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Abstract

Spontaneous Closure Rates of Ventricular Septal Defects (6,750 Consecutive Neonates).

Zhao QM, Niu C, Liu F, Wu L, Ma XJ, Huang GY

Although ventricular septal defect (VSD) is a common and simple congenital heart disease in newborns, its true incidence and spontaneous closure (SC) rate remains topics of controversy. This study aims to provide data on the true incidence and SC rate of VSD in the Chinese neonatal population. We conducted a prospective study at 3 hospitals, all newborns underwent echocardiography. Those with a diagnosis of isolated VSD were included in the study group and underwent a 7-year follow-up period. In 6,750 newborns, VSDs were detected in 113 cases (incidence rate of 16.7%), accounting for 62.8% of congenital heart disease, of which 35 were perimembranous (5.2%), 72 were muscular (10.7%), and 6 were doubly committed juxta-arterial (0.9‰). During the 7-year follow-up period, 18 cases required surgical or transcatheter closure. The SC rate in those with perimembranous VSD and muscular VSD (mVSD) were 51.4% (18 of 35) and 97.2% (70 of 72), respectively. Excluding doubly committed juxta-arterial, perimembranous site and defects ≥4 mm are risk factors for VSD that do not spontaneously close. Independent predictive factors for perimembranous VSD which do not spontaneously close is defects ≥4 mm. There was no significant difference in the SC rate at different times between the 4 mVSD sites. In conclusion, this study provides the true incidence and SC rate for Chinese newborns with VSD.

Copyright © 2019 Elsevier Inc. All rights reserved.

Am J Cardiol: 14 Aug 2019; 124:613-617
Zhao QM, Niu C, Liu F, Wu L, Ma XJ, Huang GY
Am J Cardiol: 14 Aug 2019; 124:613-617 | PMID: 31208700
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Impact:
Abstract

Comparison of Economic Self-sufficiency and Educational Attainment in Adults with Congenital Heart Disease vs Siblings without Heart Disease and to General Population.

Madsen NL, Marino BS, Woo JG, Olsen M

Among children with congenital heart disease (CHD), there is often neurodevelopmental and behavioral impairment with unclear implications regarding adult socioeconomic achievements. We aimed to compare economic self-sufficiency and educational attainment in CHD adults with sibling and general population controls. Using Danish population-based nationwide registries this cohort study aimed to include all CHD subjects greater than 13 years born between 1963-1993. Comparison cohorts included: 1) sibling cohort, and 2) general population cohort matched 10:1 on birth year and gender. We computed cumulative incidences of time to first full year of economic self-sufficiency, as well as educational attainment. We assessed the relative probability of self-sufficiency in all cohorts before 30 years of age, defined by Statistics Denmark federal standard. In total, we identified 7,019 CHD subjects, 6,257 full siblings and 68,805 general population controls. The cumulative incidence of self-sufficiency by age 20 and 35 years for CHD subjects (49% and 84%, respectively) was lower than sibling (68% and 96%) and general population cohorts\' (67% and 95%). The relative probability of self-sufficiency for CHD subjects compared with siblings was 0.44 (95% CI: 0.39-0.49). By age 30, adults with CHD were less likely than their siblings to attain all levels of education. Among those achieving higher educational milestones, differences in self-sufficiency between cohorts were absent by age 35. In conclusion, CHD is associated with reduced adult economic self-sufficiency, and the relationship between educational level attained and self-sufficiency may suggest that targeted interventions have the potential to improve adult self-sufficiency.

Copyright © 2020. Published by Elsevier Inc.

Am J Cardiol: 27 Aug 2020; epub ahead of print
Madsen NL, Marino BS, Woo JG, Olsen M
Am J Cardiol: 27 Aug 2020; epub ahead of print | PMID: 32866448
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Abstract

Surveillance of Congenital Heart Defects among Adolescents at Three U.S. Sites.

Lui GK, McGarry C, Bhatt A, Book W, ... Zaidi A, Van Zutphen AR

The prevalence, co-morbidities, and healthcare utilization in adolescents with congenital heart defects (CHDs) is not well understood. Adolescents (11 to 19 years old) with a healthcare encounter between January 1, 2008 (January 1, 2009 for MA) and December 31, 2010 with a CHD diagnosis code were identified from multiple administrative data sources compiled at 3 US sites: Emory University, Atlanta, Georgia (EU); Massachusetts Department of Public Health (MA); and New York State Department of Health (NY). The estimated prevalence for any CHD was 4.77 (EU), 17.29 (MA), and 4.22 (NY) and for severe CHDs was 1.34 (EU), 3.04 (MA), and 0.88 (NY) per 1,000 adolescents. Private or commercial insurance was the most common insurance type for EU and NY, and Medicaid for MA. Inpatient encounters were more frequent in severe CHDs. Cardiac co-morbidities included rhythm and conduction disorders at 20% (EU), 46% (MA), and 9% (NY) as well as heart failure at 3% (EU), 15% (MA), and 2% (NY). Leading noncardiac co-morbidities were respiratory/pulmonary (22% EU, 34% MA, 16% NY), infectious disease (17% EU, 22% MA, 20% NY), non-CHD birth defects (12% EU, 23% MA, 14% NY), gastrointestinal (10% EU, 28% MA, 13% NY), musculoskeletal (10% EU, 32% MA, 11% NY), and mental health (9% EU, 30% MA, 11% NY). In conclusion, this study used a novel approach of uniform CHD definition and variable selection across administrative data sources in 3 sites for the first population-based CHD surveillance of adolescents in the United States. High resource utilization and co-morbidities illustrate ongoing significant burden of disease in this vulnerable population.

Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved.

Am J Cardiol: 30 Jun 2019; 124:137-143
Lui GK, McGarry C, Bhatt A, Book W, ... Zaidi A, Van Zutphen AR
Am J Cardiol: 30 Jun 2019; 124:137-143 | PMID: 31030970
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Abstract

Barriers and Facilitators of Palliative Care and Advance Care Planning in Adults with Congenital Heart Disease.

Steiner JM, Dhami A, Brown CE, Stout KK, ... Engelberg RA, Kirkpatrick JN

Palliative care has potential to improve quality of life and goal-concordant care for patients with adult congenital heart disease (ACHD). However, it is rarely employed prior to critical illness because the best methods for implementation are not well-defined. We qualitatively evaluated ACHD patients\' understanding of and opinions regarding palliative care and advance care planning (ACP) to better define the needs of this population. We conducted a thematic analysis of 25 semi-structured interviews with patients with ACHD in which we assessed participants\' perspectives on the need for, and barriers and facilitators to, the use of palliative care and ACP. In a group of participants with ACHD (mean age 38, 48% male) classified as simple (24%), moderate (32%), or complex (44%), we identified 4 major themes: 1) using knowledge to combat future uncertainties; 2) unfamiliarity with and limited exposure to palliative care and ACP; 3) facilitators and barriers to engaging in palliative care and ACP; and 4) importance of timing and presentation of ACP discussions. In conclusion, participants expressed a desire for knowledge about ACHD progression and treatment. They supported routine incorporation of palliative care and ACP and identified related facilitators and barriers to doing so. Importantly, timing and format of these discussions must be individualized using shared decision-making between clinicians, patients, and their families.

Copyright © 2020. Published by Elsevier Inc.

Am J Cardiol: 27 Aug 2020; epub ahead of print
Steiner JM, Dhami A, Brown CE, Stout KK, ... Engelberg RA, Kirkpatrick JN
Am J Cardiol: 27 Aug 2020; epub ahead of print | PMID: 32866444
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Abstract

Comparison of Left Ventricular Mass Calculation Methods via Two-Dimensional Echocardiogram in Children, Adolescents, and Young Adults With Systemic Hypertension.

Lang SM, Ittleman BR, Hahn E, Moore RA, ... Kimball TR, Statile CJ

Left ventricular (LV) mass is a major determining tool for myocardial injury in hypertensive patients. Issues with LV mass calculations exist given that there are multiple methods to assess mass, including from the parasternal long axis (PLA), parasternal short axis (PSA), and 2-dimensional (2D) volumetric methods. The aim of this study was to compare the agreement of LV mass calculations using the PLA, PSA, and 2D volumetric methods. This study retrospectively reviewed 200 consecutive, initial echocardiograms for the indication of hypertension. A single reader calculated the LV mass in each patient via the PLA, PSA, and 2D volumetric methods. Percent differences for each study were calculated. LV mass threshold cutoffs of 51 g/m (cardiac organ injury) and 38.6 g/m (elevated LV mass) were used to compare categorical differences between the different measurement methods. Paired comparisons demonstrated an absolute mean percent difference of 8.46% to 9.41% among the different methods. LV mass calculated by the 2D volumetric method was less compared with PLA and PSA methods (31.64 vs 33.90 vs 35.51 g/m; p < 0.0001). Fewer patients were classified as having cardiac target organ injury or elevated LV mass via 2D volumetric calculation, compared with PLA and PSA methods (p = 0.02 and p = 0.03, respectively). In conclusion, there is a small but important difference in LV mass calculations for patients with hypertension. These results emphasize the need for consistency within echocardiography laboratories as surveillance studies are common in this patient population.

Copyright © 2019 Elsevier Inc. All rights reserved.

Am J Cardiol: 14 Jul 2019; 124:239-244
Lang SM, Ittleman BR, Hahn E, Moore RA, ... Kimball TR, Statile CJ
Am J Cardiol: 14 Jul 2019; 124:239-244 | PMID: 31088660
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Abstract

Staffing, activities, and infrastructure in 96 specialised adult congenital heart disease clinics in Europe.

Thomet C, Moons P, Budts W, De Backer J, ... Schwerzmann M,
Background
Clinical guidelines emphasise the need for specialised adult congenital heart disease (ACHD) programmes. In 2014, the working group on Grown-up Congenital Heart Disease of the European Society of Cardiology (ESC) published recommendations on the organisation of specialised care for ACHD. To appraise the extent to which these recommendations were being implemented throughout Europe, we assessed the number of patients in active follow-up and available staff resources in European ACHD programmes.
Methods
We conducted a descriptive, cross-sectional, paper-based survey of specialised ACHD centres in Europe in late 2017 concerning their centre status in 2016. Data from 96 ACHD centres were analysed. We categorised ACHD programmes into seven different centre types based on their staff resources and composition of interdisciplinary teams.
Results
Only four centres fulfilled all medical and non-medical staffing requirements of the ESC recommendations. Although 60% of the centres offered all forms of medical care, they had incomplete non-medical resources (i.e., specialised nurses, social workers, or psychologists). The participating centres had 226,506 ACHD patients in active follow-up, with a median of 1500 patients per centre (IQR: 800-3400). Six per cent of the patients were followed up in a centre that lacked a CHD surgeon or congenital interventional cardiologist.
Conclusions
A minority of European ACHD centres have the full recommended staff resources available. This suggests that as of 2016 either ACHD care in Europe was still not optimally organised, or that the latest ESC recommendations were not fully implemented in clinical practice.

Copyright © 2019 Elsevier B.V. All rights reserved.

Int J Cardiol: 30 Sep 2019; 292:100-105
Thomet C, Moons P, Budts W, De Backer J, ... Schwerzmann M,
Int J Cardiol: 30 Sep 2019; 292:100-105 | PMID: 31085084
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Abstract

Early detection of ventricular arrhythmias in adults with congenital heart disease using an insertable cardiac monitor (EDVA-CHD study).

Sakhi R, Kauling RM, Theuns DA, Szili-Torok T, ... Roos-Hesselink JW, Yap SC
Background
Sudden cardiac death (SCD) due to ventricular arrhythmias (VA) is an important mode of death in adults with congenital heart disease (CHD). Risk stratification is difficult in this heterogeneous population. Insertable cardiac monitors (ICM) may be useful for risk stratification. The purpose of the present study was to evaluate the use of ICM for the detection of VA in adults with CHD.
Methods
In this prospective single-center observational study we included consecutive adults with CHD deemed at risk of VA who received an ICM between March 2013 and February 2019. The decision to implant an ICM was made in a Heart Team consisting of a cardiac electrophysiologist and a cardiologist specialized in CHD.
Results
A total of 30 patients (mean age, 38 ± 15 years; 50% male) received an ICM. During a median follow-up of 16 months, 8 patients (27%) had documented nonsustained VA. Of these 8 patients, 3 (10%) received a prophylactic ICD. Furthermore, ICM-detected arrhythmias were present in 22 patients (73%) leading to a change in clinical management in 16 patients (53%). Besides the patients receiving an ICD, 10 patients (33%) had a change in their antiarrhythmic drugs, 6 patients (20%) underwent an electrophysiology study, and 1 patient (3%) received a pacemaker.
Conclusions
The detection of VA by the ICM contributed to the clinical decision to implant a prophylactic ICD. Furthermore, ICM-detected arrhythmias led to important changes in the clinical management. Therefore, long-term arrhythmia monitoring by an ICM seems valuable for risk stratification in adults with CHD.

Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Int J Cardiol: 03 Feb 2020; epub ahead of print
Sakhi R, Kauling RM, Theuns DA, Szili-Torok T, ... Roos-Hesselink JW, Yap SC
Int J Cardiol: 03 Feb 2020; epub ahead of print | PMID: 32057477
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Abstract

Association of maternal dietary intakes and CBS gene polymorphisms with congenital heart disease in offspring.

Li Y, Diao J, Li J, Luo L, ... Zhu P, Qin J
Background
Although it is generally acknowledged that genetic and environmental factors are associated with risk of congenital heart disease (CHD), the causes are not fully understood. This study aimed at assessing the association of maternal dietary intakes, genetic variants of cystathionine beta synthase (CBS) gene and their interactions with risk of CHDs in offspring.
Method
A hospital-based case-control study of 464 mothers with CHD infants and 504 control mothers of health infant was performed. The exposures of interest were maternal dietary intakes in early pregnancy, single nucleotide polymorphisms (SNPs) of CBS gene.
Results
More frequent intake of pickled vegetables (adjusted odds ratio[aOR] = 1.81; 95% confidence interval[CI]: 1.38-2.37), smoked foods (aOR = 2.00; 95%CI: 1.53-2.60), barbecued foods (aOR = 1.63; 95%CI: 1.19-2.25) and fried foods (aOR = 1.57; 95%CI: 1.22-2.03) were associated with higher risk of CHD, while salted eggs (aOR = 0.20; 95%CI: 0.12-0.33), fish and shrimp (aOR = 0.34; 95%CI: 0.27-0.44), fresh fruits (aOR = 0.49; 95%CI: 0.37-0.66), and milk products (aOR = 0.54; 95%CI: 0.45-0.65) were associated with lower risk of CHD. The SNPs of CBS gene at rs2851391 (T/T vs C/C: aOR = 1.91, 95%CI: 1.15-3.15) and rs234714 (T/T vs C/C: aOR = 2.22, 95%CI: 1.32-3.73) significantly increased the risk of CHD. Additionally, significant interaction effects between maternal dietary intakes and CBS genetic variants on CHD risks were observed.
Conclusions
Maternal dietary factors, CBS genetic variants and their interactions were significantly associated with risk of CHD in offspring. However, it is still unclear how these factors jointly work in the development of CHD, and more studies with larger samples and prospective design are required.

Copyright © 2020 Elsevier B.V. All rights reserved.

Int J Cardiol: 31 Dec 2020; 322:121-128
Li Y, Diao J, Li J, Luo L, ... Zhu P, Qin J
Int J Cardiol: 31 Dec 2020; 322:121-128 | PMID: 32800907
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Abstract

Aging athlete\'s heart: An echocardiographic evaluation of competitive sprint- vs endurance-trained master athletes.

Kusy K, Błażejewski J, Gilewski W, Karasek D, ... Sinkiewicz W, Grześk G
Background
Sports training triggers exercise-induced cardiac remodeling (EICR). Sprint- and endurance-trained master athletes are exposed to different hemodynamic stimuli accompanied by aging. We aimed to compare EICR types in light of the Morganroth hypothesis, frequency of abnormalities, and relationships between cardiac traits and age.
Methods
In our observational cross-sectional study, we performed echocardiographic examinations in 142 sprint-trained (36‒83 years) and 114 endurance-trained (38‒85 years) competitive master athletes. We compared structural and functional characteristics to population reference values and identified EICR types. Athletic groups were compared using t-test and chi-squared test. Relationships with age were assessed using linear regression.
Results
In the sprint group, 51.0% of athletes had normal cardiac geometry (non-hypertrophic heart), 4.2% eccentric hypertrophy, 36.4% concentric remodeling, and 8.4% concentric hypertrophy. In their endurance peers, the proportions were 22.8%, 16.7%, 36.8%, and 23.7%, respectively. Many athletes in both groups had structural abnormalities as assessed using population norms (up to ∼81% for septal thickness) but their resting cardiac function was normal. The relationships of structural and functional cardiac characteristics with age were mostly weak to moderate and did not differ between training modalities.
Conclusions
Even though many endurance- and sprint-oriented master athletes exceed population norms for cardiac structure, they do not go beyond the \'gray zone\' and preserve normal cardiac function. Therefore, physiological adaptations, rather than pathological abnormalities, are expected in aging but still active athletes. Inconsistent with the Morganroth hypothesis, EICR is shifted toward normal geometry in sprinters and concentric remodeling/hypertrophy in endurance runners. A better understanding of the mechanisms behind cardiac remodeling during aging is needed to adequately predict EICR types in master athletes.

Copyright © 2021. Published by Elsevier Inc.

J Am Soc Echocardiogr: 23 Jun 2021; epub ahead of print
Kusy K, Błażejewski J, Gilewski W, Karasek D, ... Sinkiewicz W, Grześk G
J Am Soc Echocardiogr: 23 Jun 2021; epub ahead of print | PMID: 34175421
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Abstract

Move more - be happier? Physical Activity and Health-Related Quality of Life in Children with Congenital Heart Disease.

Brudy L, Meyer M, Oberhoffer R, Ewert P, Müller J
Objective
This cross-sectional study aimed to determine whether there is an association between objectively assessed physical activity (PA) and health-related quality of life (HRQoL) in children with CHD.
Patients and methods
From September 2017 to January 2021, 343 children with CHD (12.1 ± 3.3 years, 135 girls) provided valid PA data after a 7-day objective PA assessment. PA was evaluated as average daily steps and moderate-to-vigorous physical activity (MVPA) minutes assessed via wearable bracelet Garmin vivofit® Jr. These children also completed the KINDL® - a 24 Likert-scaled item questionnaire assessing HRQoL in the six dimensions physical well-being, emotional well-being, self-esteem, family, friends and everyday functioning.
Results
Daily Steps (r=.166, p=.003) and daily MVPA minutes (r=.134, p=.017,) were both correlated to total KINDL® score. Furthermore, both steps and MVPA were associated with the subscales physical well-being (steps: r=.165 p=.003; MVPA: r=.129, p=.022), friends (steps: r=.210, p<.001, MVPA: r=.179, p=.001), and steps also to everyday functioning (r=.142, p=.012). Logistic regression showed each MVPA minute increase conferred to a 1% increase in reporting better HRQoL (OR: 1.009 [95% CI: 1.002 - 1.017], p=.019).
Conclusions
PA was positively associated with HRQoL in children with CHD. Patients who move more are more likely to report better HRQoL. While the magnitude of this association needs to be further understood, continuous encouragement towards more PA seems to be crucial in a holistic approach to medical aftercare in children with CHD.

Copyright © 2021. Published by Elsevier Inc.

Am Heart J: 17 Jul 2021; epub ahead of print
Brudy L, Meyer M, Oberhoffer R, Ewert P, Müller J
Am Heart J: 17 Jul 2021; epub ahead of print | PMID: 34289343
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Abstract

Reshaping bicuspid aortic valve stenosis with an hourglass-shaped balloon for transcatheter aortic valve replacement: A pilot study.

Zhao ZG, Feng Y, Liao YB, Li YJ, ... Chen M, Leon MB
Objectives
We evaluated the safety and usefulness of preparatory anatomical reshaping with a geometric hourglass-shaped balloon to optimize transcatheter aortic valve replacement (TAVR) outcomes in bicuspid aortic valve (BAV) stenosis.
Background
TAVR has been increasingly performed for BAV stenosis; however, technical challenges remain. Procedural results are suboptimal given unfavorable valvular anatomies.
Methods
Eligible patients with BAV stenosis were enrolled to undergo aortic valve predilatation with the hourglass-shaped TAV8 balloon before TAVR using the self-expandable Venus A-Valve. Procedural details and outcomes were compared to a sequential group of patients with BAV who underwent TAVR with the same device following preparatory dilatation using a cylindrical balloon.
Results
A total of 22 patients were enrolled in the TAV8 group and 53 were included in the control group. Valve downsizing was less common in the TAV8 group (36.4 vs. 67.9%; p = .012). Stable valve release and optimal implant depth were consistently achieved in the TAV8 group with no requirement for a second valve (0 vs. 17.0%; p = .039) and with higher device success rates (100.0 vs 77.4%; p = .014). Residual aortic regurgitation graded as ≥mild was less common in the TAV8 group (13.6 vs 45.3%; p = .009). Mortality was similar (0 vs. 3.8%; p = 1); no major/disabling stroke or conversion to open-heart surgery was seen in either group within 30 days.
Conclusions
Compared with standard cylindrical balloon valvuloplasty, preparatory reshaping with the hourglass-shaped balloon before self-expandable TAVR in BAV was associated with significantly better procedural results and may encourage more promising outcomes.

© 2020 Wiley Periodicals, Inc.

Catheter Cardiovasc Interv: 13 Jan 2020; epub ahead of print
Zhao ZG, Feng Y, Liao YB, Li YJ, ... Chen M, Leon MB
Catheter Cardiovasc Interv: 13 Jan 2020; epub ahead of print | PMID: 31943783
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Impact:
Abstract

Hemodynamics in Adults With the Shone Complex.

Jain CC, Warnes CA, Egbe AC, Cetta F, ... Connolly HM, Miranda WR

Patients with Shone complex (SC) have multiple left-sided obstructive lesions and thus are at risk for left ventricular (LV) remodeling, LV diastolic dysfunction and pulmonary hypertension. Yet, to date, there has been no description of hemodynamics in adults with SC. Retrospective chart review of 25 patients with SC who underwent cardiac catheterization at Mayo Clinic, MN between 2002 and 2019 was performed. SC was defined as multiple left-sided obstructive lesions in the presence of an anatomically abnormal mitral valve. Median age was 32 years (22.5, 42) and 15 patients (60%) were female. The majority of patients (84%) had history of coarctation of the aorta, 10 (40%) had subaortic stenosis, 11 (44%) had prior aortic valve replacement, and 10 (40%) had prior mitral valve replacement. Structural disease at the time of catheterization which warranted intervention within the next year was present in 13 patients (52%). The mean LV end-diastolic pressure was 21.3 ± 9.0 mm Hg (>15 mm Hg in 71%), pulmonary artery peak systolic pressure was 55.4 ± 13.4 mm Hg, and the pulmonary artery mean pressure was 37.0 ± 9.4 mm Hg (>20 mm Hg in 96%). During a mean follow-up of 8.3 ± 4.4 years, there were 7 deaths (28%) and 3 additional patients (12%) underwent cardiac transplantation. In conclusion, adults with SC who underwent catheterization showed significant left-sided heart and pulmonary vascular remodeling. Elevated LV end-diastolic pressure and pulmonary artery pressures were highly prevalent. There were high mortality and cardiac transplant rates in our cohort.

Copyright © 2020 Elsevier Inc. All rights reserved.

Am J Cardiol: 31 Dec 2019; 130:137-142
Jain CC, Warnes CA, Egbe AC, Cetta F, ... Connolly HM, Miranda WR
Am J Cardiol: 31 Dec 2019; 130:137-142 | PMID: 32703525
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Impact:
Abstract

Low bone mineral density in adults with complex congenital heart disease.

Sandberg C, Johansson K, Christersson C, Hlebowicz J, Thilén U, Johansson B
Aims
The majority of children with complex congenital heart disease (CHD) survive into adulthood due to advances in medical care. Adult patients with CHD have an increased incidence of diagnoses related to ageing such as heart failure, dementia, cancer and sarcopenia, despite a relatively low age. They also have a shorter life expectancy. It is unknown if their bone structures also show signs of premature ageing. We therefore investigated Bone Mineral Content (BMC) and bone mineral density (BMD) in an adult population with complex CHD.
Methods
The total body BMC and BMD was examined using dual energy X-ray absorptiometry (DXA) in 73 adults with complex CHD (mean age 35.8 ± 14.3, women n = 22) and 73 age and sex matched controls.
Results
The adults with complex CHD had lower total body BMC (2.6 ± 0.5 kg vs. 2.9 ± 0.5 kg, p < 0.001) and BMD (1.18 ± 0.12 g/cmvs. 1.26 ± 0.11 g/cm, p < 0.001) compared to controls. BMD was lower for patients with single ventricle physiology and for the other complex diagnoses, and it persisted after correction for most common risk factors for osteoporosis.
Conclusion
Adults with complex CHD have reduced total body BMC and BMD compared to healthy controls. These results are a sign of frailty that conforms with other previously reported signs of premature ageing. The risk of osteoporosis is low in our relatively young population, but it is assumed to increase with ageing. We recommend that clinicians pay close attention to risk factors for osteoporosis, and are generous in administering DXA-measurements in order to prevent future fractures among adults with complex CHD.

Copyright © 2020. Published by Elsevier B.V.

Int J Cardiol: 03 Jul 2020; epub ahead of print
Sandberg C, Johansson K, Christersson C, Hlebowicz J, Thilén U, Johansson B
Int J Cardiol: 03 Jul 2020; epub ahead of print | PMID: 32634489
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Impact:
Abstract

Tricuspid valve tethering is associated with residual regurgitation after valve repair in hypoplastic left heart syndrome: a three-dimensional echocardiography study.

Shigemitsu S, Mah K, Thompson RB, Grenier J, ... Khoo NS, Colen T
Background
Tricuspid regurgitation (TR) is a risk factor for morbidity and mortality in children with hypoplastic left heart syndrome (HLHS). Surgical tricuspid valve (TV) repair is common but durable repair remains challenging. This study examines mechanisms of TR requiring surgery, features associated with unsuccessful repair, and TV changes after surgical repair.
Methods
We assessed 36 patients with HLHS requiring TV repair (TVR) and 36 matched HLHS controls using two-dimensional and three-dimensional echocardiography (2DE and 3DE). Using 3DE, TV coordinates from annulus, leaflet and ventricle were used to measure annulus, leaflet, prolapse and tethering values, and anterior papillary muscle (APM) angle. TR grade, ventricle size, function and shape were assessed with 2DE.
Results
Patients requiring TVR had greater total leaflet prolapse, larger TV annular and leaflet areas, and flatter annulus, with no difference in tethering, coaptation index or APM angle. HLHS patients with successful TVR at follow-up (58%) was associated with preoperative total leaflet prolapse (especially posterior). Unsuccessful repair was associated with preoperative tethering of septal leaflet. TVR in HLHS patients caused a reduction of total annulus and leaflets size, reduced prolapse and tethering of posterior leaflet, but did not affect anterior leaflet prolapse or septal leaflet tethering.
Conclusion
Features associated with TVR include a flattened and dilated TV annulus with leaflet prolapse. The additional presence of a tethered septal leaflet prior to TVR is associated with significant post-operative TR. Current surgical techniques, predominantly posterior annuloplasty and commissuroplasty, adequately address annulus size and posterior leaflet pathology, but not septal leaflet tethering. Individualized and innovative surgical techniques are vital to improve surgical repair success.

Copyright © 2021. Published by Elsevier Inc.

J Am Soc Echocardiogr: 16 Jun 2021; epub ahead of print
Shigemitsu S, Mah K, Thompson RB, Grenier J, ... Khoo NS, Colen T
J Am Soc Echocardiogr: 16 Jun 2021; epub ahead of print | PMID: 34147648
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Impact:
Abstract

Left ventricular myocardial deformation as measure of hemodynamic burden in congenital valvular aortic stenosis.

Reddy SC, Zhang J, Jani V, Wolfe SB, ... Kutty S, Pignatelli RH
Background
Changes in 2D echocardiography (2DE) speckle tracking imaging (STI) derived left ventricular (LV) strain (S) and strain rate (SR) precedes diminution of LV ejection fraction (LVEF) in adult valvular aortic stenosis (AS). We prospectively examined whether 2DE-STI derived multidirectional LV S and SR correlate with AS severity in children using LV mass index (MI) as the principal outcome variable.
Methods
52 children (10.4 ± 7.3 years) with isolated congenital AS were included; 13 mild (2.5 m/s < V < 3.0 m/s), 25 moderate (3.0 m/s < V < 4.0 m/s), and 14 severe (V > 4.0 m/s). 2DE including Doppler and STI longitudinal strain (LS), strain rate (LSR), circumferential strain (CS), and strain rate (CSR) were measured. Univariate and multivariable linear regressions identified correlations between LVMI and strain indices.
Results
Three clinical and 2DE variables, and four strain indices were independently associated with LVMI. LVMI correlated positively with systolic blood pressure and aortic regurgitation, and negatively with LVEF. LVMI correlated positively with LSR (four-chamber) and CSR (basal), and negatively with segmental CS in the inferior (basal) and anteroseptal (distal) segments. LVMI showed significant inverse association with GLS (P = .05), GLSR (P < .001), CS (P < .005), CSR (P < .0001), RSR (P < .001), independent of AS severity.
Conclusions
Independent of clinical and 2DE findings including contemporaneous Doppler estimates of AS gradient, both longitudinal and circumferential strain indices correlate with LVMI as a measure of cumulative hemodynamic burden. This association implies subclinical LV dysfunction.

Copyright © 2020. Published by Elsevier B.V.

Int J Cardiol: 13 Jul 2020; epub ahead of print
Reddy SC, Zhang J, Jani V, Wolfe SB, ... Kutty S, Pignatelli RH
Int J Cardiol: 13 Jul 2020; epub ahead of print | PMID: 32679139
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Impact:
Abstract

Variation in the outer diameter of vascular sheaths commonly used in infant cardiac catheterization.

Mathis C, Romans R, Divekar A
Objective
To compare the outer diameter (OD) of conventional and radial sheaths from different manufacturers for sizes typically used in infant catheterization.
Background
The smallest sheath size is recommended to minimize risk of arterial injury in infants. However, sheath size refers to its internal diameter (ID), but it is the larger OD that determines risk. The OD varies between manufacturers and is frequently not known to the end user.
Methods
Three authors measured the OD of 3, 3.3, 4, 5, and 6 French (Fr) sheaths from different manufacturers using a Mitutoyo digital micrometer. Continuous variables are reported as mean ± SD. The midshaft and proximal-shaft sheath measurements were compared using an independent samples t test. Agreement between author measurements was tested using intra- and inter-rater reliability analysis. Manufacturer sheath OD measurements were obtained. Statistical significance was set at p < .05.
Results
There was no difference in the measured sheath diameters at the midpoint and proximally (p < .05). The intra-rater and inter-rater reliability were excellent (Intraclass correlation coefficient 1.0). Among conventional sheaths the OD varied between manufacturers, Terumo sheaths had the smallest and Galt sheaths had the largest OD. Radial sheaths had the smallest OD (1 Fr smaller) when compared to similar sized conventional sheaths. For instance, the OD of 4 Fr radial sheath (1.610 ± 0.006 mm) is essentially the same as the OD of the conventional 3 Fr (1.644 ± 0.016 mm) and 3.3 Fr (1.635 ± 0.005 mm) sheaths.
Conclusions
Our study shows variation in the OD of sheaths used in infant catheterization. The radial sheaths offer the smallest OD across sizes.

© 2020 Wiley Periodicals, Inc.

Catheter Cardiovasc Interv: 28 Feb 2020; epub ahead of print
Mathis C, Romans R, Divekar A
Catheter Cardiovasc Interv: 28 Feb 2020; epub ahead of print | PMID: 32112611
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Impact:
Abstract

Contraceptive methods of privately insured US women with congenital heart defects.

Anderson KN, Tepper NK, Downing K, Ailes EC, Abarbanell G, Farr SL
Background
The American Heart Association recommends women with congenital heart defects (CHD) receive contraceptive counseling early in their reproductive years, but little is known about contraceptive method use among women with CHD. We describe recent female sterilization and reversible prescription contraceptive method use by presence of CHD and CHD severity in 2014.
Methods
Using IBM MarketScan Commercial Databases, we included women aged 15 to 44 years with prescription drug coverage in 2014 who were enrolled ≥11 months annually in employer-sponsored health plans between 2011 and 2014. CHD, CHD severity, contraceptive methods, and obstetrics-gynecology and cardiology provider encounters were identified using billing codes. We used log-binomial regression to calculate adjusted prevalence ratios (aPRs) and 95% confidence intervals (CIs) to compare contraceptive method use overall and by effectiveness tier by CHD presence and, for women with CHD, severity.
Results
Recent sterilization or current reversible prescription contraceptive method use varied slightly among women with (39.2%) and without (37.3%) CHD, aPR = 1.04, 95% CI [1.01-1.07]. Women with CHD were more likely to use any Tier I method (12.9%) than women without CHD (9.3%), aPR = 1.41, 95% CI [1.33-1.50]. Women with severe, compared to non-severe, CHD were less likely to use any method, aPR = 0.85, 95% CI [0.78-0.92], or Tier I method, aPR = 0.84, 95% CI [0.70-0.99]. Approximately 60% of women with obstetrics-gynecology and <40% with cardiology encounters used any included method.
Conclusions
There may be missed opportunities for providers to improve uptake of safe, effective contraceptive methods for women with CHD who wish to avoid pregnancy.

Published by Elsevier Inc.

Am Heart J: 30 Dec 2019; 222:38-45
Anderson KN, Tepper NK, Downing K, Ailes EC, Abarbanell G, Farr SL
Am Heart J: 30 Dec 2019; 222:38-45 | PMID: 32014720
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Impact:
Abstract

Individuals aged 1-64 years with documented congenital heart defects at healthcare encounters, five U.S. surveillance sites, 2011-2013.

Jill Glidewell M, Farr SL, Book WM, Botto L, ... Sommerhalter KM, Crume TL
Background
Many individuals born with congenital heart defects (CHD) survive to adulthood. However, population estimates of CHD beyond early childhood are limited in the U.S.
Objectives
To estimate the percentage of individuals aged 1-to-64 years at five U.S. sites with CHD documented at a healthcare encounter during a three-year period and describe their characteristics.
Methods
Sites conducted population-based surveillance of CHD among 1 to 10-year-olds (three sites) and 11 to 64-year-olds (all five sites) by linking healthcare data. Eligible cases resided in the population catchment areas and had one or more healthcare encounters during the surveillance period (January 1, 2011-December 31, 2013) with a CHD-related ICD-9-CM code. Site-specific population census estimates from the same age groups and time period were used to assess percentage of individuals in the catchment area with a CHD-related ICD-9-CM code documented at a healthcare encounter (hereafter referred to as CHD cases). Severe and non-severe CHD were based on an established mutually exclusive anatomic hierarchy.
Results
Among 42,646 CHD cases, 23.7% had severe CHD and 51.5% were male. Percentage of CHD cases among 1 to 10-year-olds, was 6.36/1,000 (range: 4.33-9.96/1,000) but varied by CHD severity [severe: 1.56/1,000 (range: 1.04-2.64/1,000); non-severe: 4.80/1,000 (range: 3.28-7.32/1,000)]. Percentage of cases across all sites in 11 to 64-year-olds was 1.47/1,000 (range: 1.02-2.18/1,000) and varied by CHD severity [severe: 0.34/1,000 (range: 0.26-0.49/1,000); non-severe: 1.13/1,000 (range: 0.76-1.69/1,000)]. Percentage of CHD cases decreased with age until 20 to 44 years and, for non-severe CHD only, increased slightly for ages 45 to 64 years.
Conclusion
CHD cases varied by site, CHD severity, and age. These findings will inform planning for the needs of this growing population.

Published by Elsevier Inc.

Am Heart J: 02 May 2021; 238:100-108
Jill Glidewell M, Farr SL, Book WM, Botto L, ... Sommerhalter KM, Crume TL
Am Heart J: 02 May 2021; 238:100-108 | PMID: 33951414
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Impact:
Abstract

Determinants of Exercise-Induced Mitral Regurgitation Using Three-Dimensional Transesophageal Echocardiography Combined With Isometric Handgrip Exercise.

Harada Y, Utsunomiya H, Susawa H, Takahari K, ... Hidaka T, Nakano Y
Using three-dimensional (3D) transesophageal echocardiography (TEE) and isometric handgrip exercise (IHE), we investigated the determinants of exercise-induced mitral regurgitation (MR) according to MR etiologies. Seventy-six patients with more than moderate MR, 40 patients with functional MR (FMR) and 36 patients with degenerative MR (DMR), underwent 3D TEE combined with IHE. Mitral valve (MV) geometry and 3D vena contracta area (3D VCA) were simultaneously evaluated at baseline and during IHE. With regard to exercise-induced MR, Δ3D VCA was calculated as the difference between 3D VCA at baseline and 3D VCA during IHE. IHE caused different changes in MV geometry between etiologies and led to exacerbation of 3D VCA at baseline. Larger Δ3D VCA was observed in the FMR group compared with the DMR group (15.9 ± 10.3 mm2 versus 7.3 ± 4.2 mm2; p < 0.0001). In multivariate analyses, tenting height and 3D VCA were selected as independent factors associated with Δ3D VCA in the FMR group (p = 0.0135 and p = 0.0201, respectively), while flail width was selected as an independent factor associated with Δ3D VCA in the DMR group (p = 0.0066). In conclusion, IHE alters mitral valve geometry and causes exacerbation of MR regardless of MR etiology and the determinants of exercise-induced MR differed between MR etiologies.

Copyright © 2021 The Author(s). Published by Elsevier Inc. All rights reserved.

Am J Cardiol: 24 May 2021; epub ahead of print
Harada Y, Utsunomiya H, Susawa H, Takahari K, ... Hidaka T, Nakano Y
Am J Cardiol: 24 May 2021; epub ahead of print | PMID: 34049673
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Impact:
Abstract

Longitudinal Strain and Strain Rate for Estimating Left Ventricular Filling Pressure in Heart Transplant Recipients.

Colak A, Muderrisoglu H, Pirat B, Eroglu S, ... Sezgin A, Sade LE
Traditional parameters have limited value to estimate left ventricular filling pressure (LVFP) in orthotropic heart transplant (OHT) recipients. We hypothesized that global longitudinal strain (GLS), diastolic, and systolic strain rate (SR) would be depressed in OHT recipients with elevated LVFP and could overcome the limitations of traditional parameters. We studied consecutively OHT patients at the time of endomyocardial biopsies and retrospectively pretransplantation studies conforming to the same protocol. Comprehensive echocardiography with strain measurements was performed. Results were compared with pulmonary capillary wedge pressure (PCWP) obtained from right heart catheterization that was performed just after the echocardiography study. In all, 74 studies were performed in 50 OHT recipients. Mean PWCP was 11.8 ± 4.3 mm Hg (range: 4 to 25 mm Hg). Several parameters, but not left atrial volume index, mitral inflow velocities, annular velocities, and their ratio (E/e\'), were different between studies with normal (n = 47) and elevated PCWP (n = 27). Area Under Curve for GLS (0.932*), E/e\'SR (0.849*), and systolic SR (0.848*) (*p <0.0001) were more accurate than traditional parameters for predicting PCWP>12 mm Hg. GLS, systolic SR and E/e\'SR remained accurate regardless of LV ejection fraction and allograft vasculopathy. Meanwhile, E/e\' was accurate to predict PWCP in native failing hearts before transplantation. Changes in GLS and E/e\'SR tracked accurately changes in PCWP. In conclusion, traditional indices of diastolic function perform poorly in OHT recipients, whereas GLS and E/e\'SR provide reliable means of LVFP, irrespective of ejection fraction and allograft vasculopathy. These parameters also track reasonably well the changes in LVFP.

Copyright © 2020 Elsevier Inc. All rights reserved.

Am J Cardiol: 14 Jan 2020; 137:63-70
Colak A, Muderrisoglu H, Pirat B, Eroglu S, ... Sezgin A, Sade LE
Am J Cardiol: 14 Jan 2020; 137:63-70 | PMID: 32998008
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Impact:
Abstract

Venous Flow Variation Predicts Preoperative Pulmonary Venous Obstruction in Children with Total Anomalous Pulmonary Venous Connection.

White BR, Faerber JA, Katcoff H, Glatz AC, Mascio CE, Cohen MS
Background
Identifying preoperative pulmonary venous obstruction in total anomalous pulmonary venous connection is important to guide treatment planning and risk prognostication. No standardized echocardiographic definition of obstruction exists in the literature. Definitions based on absolute velocities are affected by technical limitations and variations in pulmonary venous return. The authors developed a metric to quantify pulmonary venous blood flow variation: pulmonary venous variability index (PVVI). The aim of this study was to demonstrate its accuracy in defining obstruction.
Methods
All patients with total anomalous pulmonary venous connection at a single institution were identified. Echocardiograms were reviewed, and maximum (Vmax), mean (Vmean), and minimum (Vmin) velocities along the pulmonary venous pathway were measured. PVVI was defined as (Vmax - Vmin)/Vmean. These metrics were compared with pressures measured on cardiac catheterization. Echocardiographic measures were then compared between patients with and without clinical preoperative obstruction (defined as a need for preoperative intubation, catheter-based intervention, or surgery within 1 day of diagnosis), as well as pulmonary edema by chest radiography and markers of lactic acidosis. One hundred thirty-seven patients were included, with 22 having catheterization pressure recordings.
Results
Vmax and Vmean were not different between patients with catheter gradients ≥ 4 and < 4 mm Hg, while PVVI was significantly lower and Vmin higher in those with gradients ≥ 4 mm Hg. The composite outcome of preoperative obstruction occurred in 51 patients (37%). Absolute velocities were not different between patients with and without clinical obstruction, while PVVI was significantly lower in patients with obstruction. All metrics except Vmax were associated with pulmonary edema; none were associated with blood gas metrics.
Conclusions
The authors developed a novel quantitative metric of pulmonary venous flow, which was superior to traditional echocardiographic metrics. Decreased PVVI was highly associated with elevated gradients measured by catheterization and clinical preoperative obstruction. These results should aid risk assessment and diagnosis preoperatively in patients with total anomalous pulmonary venous connection.

Copyright © 2021 American Society of Echocardiography. Published by Elsevier Inc. All rights reserved.

J Am Soc Echocardiogr: 29 Jun 2021; 34:775-785
White BR, Faerber JA, Katcoff H, Glatz AC, Mascio CE, Cohen MS
J Am Soc Echocardiogr: 29 Jun 2021; 34:775-785 | PMID: 33600926
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Impact:
Abstract

Heart transplantation at a single tertiary adult congenital heart disease centre: Too little, too late?

Merás P, Riesgo-Gil F, Rybicka J, Barradas-Pires A, ... Simon A, Gatzoulis MA
Background
Heart failure (HF) is the leading cause of death in adults with congenital heart disease (ACHD). Heart transplantation can be an effective therapy for them, albeit unfavourable anatomy, end-organ damage, pulmonary vascular disease, HLA sensitization and lack of robust selection criteria currently limit its application.
Methods
Consecutive CHD patients considered for heart or combined heart and lung transplantation at our tertiary ACHD centre between 2000 and 2018 constitute our study population. Baseline characteristics and outcome, including transplantation and death, were obtained for all patients from designated databases, medical records and the UK Office for National Statistics.
Results
From a total of more than 9000 active ACHD patients under follow-up, 166 (median age 40.4 years) fulfilled inclusion criteria, with a broad spectrum of underlying diagnosis: univentricular heart 22.3%, systemic right ventricle 22.3%, systemic-to-pulmonary shunts and Eisenmenger syndrome 16.3%, left sided valvular lesions 14.5%, tetralogy of Fallot 12.7%, CHD associated with cardiomyopathy 4.8% and other 7.2%. There was a high overall mortality with 39.2% of patients dying over a median follow-up of 2.7 years. A minority of patients (22.9%) were eventually listed and only 13.3% from the 166 patients were actually transplanted. Survival at 1 year after transplantation was 81.8% and remained high long-term (65.5% at 15 years). We describe herewith in detail characteristics and outcome of our cohort and present the transplantation pathway followed.
Conclusion
Of the small number of patients with ACHD considered for heart transplantation at a large tertiary centre, there was high overall mortality, with only a fraction of patients being actually transplanted. Patients who received transplantation, however, had a good outcome. Better patient selection and timing are clearly warranted so that more ACHD patients are considered and potentially benefit from this effective form of therapy.

Copyright © 2020. Published by Elsevier B.V.

Int J Cardiol: 12 Aug 2020; epub ahead of print
Merás P, Riesgo-Gil F, Rybicka J, Barradas-Pires A, ... Simon A, Gatzoulis MA
Int J Cardiol: 12 Aug 2020; epub ahead of print | PMID: 32798622
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Impact:
Abstract

Echocardiographic Assessment of Cardiac Function in Pediatric Survivors of Anthracycline-Treated Childhood Cancer.

Slieker MG, Fackoury C, Slorach C, Hui W, ... Nathan PC, Mertens L
Background
Anthracycline-induced cardiotoxicity is a major cause of morbidity and mortality in childhood cancer survivors (CCSs). Echocardiographic myocardial strain imaging is recommended in adult patients with cancer, but its role in pediatric CCSs has not been well established.
Aims:
of this study were to determine the prevalence of abnormalities in left ventricular strain in pediatric CCSs, to compare strain with other echocardiographic measurements and blood biomarkers, and to explore risk factors for reduced strain.
Methods
CCSs ≥3 years from their last anthracycline treatment were enrolled in this multicenter study and underwent a standardized functional echocardiogram and biomarker collection. Regression analysis was used to identify factors associated with longitudinal strain (LS).
Results
Five hundred forty-six pediatric CCSs were compared with 134 healthy controls. Abnormal left ventricular ejection fraction (<50%) and mean LS ( score, <-2) was found in 0.8% and 7.7% of the CCSs, respectively. LS was significantly lower in CCSs than in controls, but the absolute difference was small (0.7%). Lower LS in CCSs was associated with older current age and higher body surface area. Sex, cumulative anthracycline dose, radiotherapy, and biomarkers were not independently associated with LS. Circumferential strain, diastolic parameters, and biomarkers were not significantly different in pediatric CCSs.
Conclusions
Global systolic function and LS are only mildly reduced in pediatric CCSs, and most LS values are within normal range. This makes single LS measurements of limited added value in identifying CCSs at risk for cardiac dysfunction. The utility of strain imaging in the long-term follow-up of CCS remains to be demonstrated.



Circ Cardiovasc Imaging: 29 Nov 2019; 12:e008869
Slieker MG, Fackoury C, Slorach C, Hui W, ... Nathan PC, Mertens L
Circ Cardiovasc Imaging: 29 Nov 2019; 12:e008869 | PMID: 31826678
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Impact:
Abstract

Use of the Gore Viabahn VBX balloon-expandable endoprosthesis in the congenital heart disease population.

Cole JM, Salavitabar A, Armstrong AK, Berman DP

The Gore Viabahn VBX balloon-expandable endoprosthesis (W. L. Gore & Associates, Flagstaff, AZ) is a flexible covered stent that is FDA-approved for the treatment of iliac artery stenosis, including lesions at the aortic bifurcation. In this case series, we report the first use of the VBX covered stent in congenital heart disease, highlighting several of its unique advantages.

© 2019 Wiley Periodicals, Inc.

Catheter Cardiovasc Interv: 04 Jul 2019; epub ahead of print
Cole JM, Salavitabar A, Armstrong AK, Berman DP
Catheter Cardiovasc Interv: 04 Jul 2019; epub ahead of print | PMID: 31276274
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Impact:
Abstract

Novel shunt modification with an adjustable stent-embedded \"fenestrated\" septal occluder in a patient with pulmonary hypertension.

Yadlapati A, Wax D, Rich S, Ricciardi MJ

A 60-year-old woman with progressive dyspnea and cyanosis, O2-dependent pulmonary hypertension despite optimal medical therapy and remote atrial septostomy presented with worsening cyanosis and right-to-left shunting. The creation of a \"fenestrated\" ASD closure device with the insertion of a peripheral stent through an AMPLATZERâ„¢ ASD closure device was deployed to minimize right to left shunting and allow for enlargement of the shunt if needed. This case demonstrates the benefit of diminishing a right to left shunt with a self-fabricated fenestrated AMPLATZER device to improve symptoms in pulmonary hypertension patients with a pre-existing ASD.

© 2019 Wiley Periodicals, Inc.

Catheter Cardiovasc Interv: 31 May 2019; 93:1382-1384
Yadlapati A, Wax D, Rich S, Ricciardi MJ
Catheter Cardiovasc Interv: 31 May 2019; 93:1382-1384 | PMID: 30838741
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Impact:
Abstract

A comparative study of minimal lower-sternal incision device closure, minimal right thoracic incision device closure, and midsternal open repair of isolated perimembranous VSD, a retrospective cohort study.

Dai XF, Chen Q, Zhang GC, Chen LW
Objective
To compare transthoracic device closure via a minimal lower-sternal incision or minimal right thoracic incision and surgical repair via midsternal incision for perimembranous ventricular septal defect (VSD).
Methods
We retrospectively analyzed the clinical data of 147 patients with isolated perimembranous VSD who were treated in our hospital from June 2017 to December 2017. According to the therapeutic approaches, the patients were divided into group A(transthoracic device closure via a minimal lower-sternal incision), group B((transthoracic device closure via a minimal right thoracic incision) and group C(surgical repair via midsternal incision). The clinical data of the three groups were statistically analyzed.
Results
The three groups of patients had satisfactory outcomes for VSD closure. No complications, including third-degree atrioventricular block, large residual shunt requiring re-operation, newly moderate-severe aortic or tricuspid regurgitation, occluder detachment were reported. Compared with group C, the operative time, duration of mechanical ventilation, length of ICU stay, drainage volume, blood transfusion volume, length of the incision, and length of postoperative hospital stay were significantly lower in the device groups (A and B).
Conclusion
Transthoracic device closure via a minimal lower-sternal incision or minimal right thoracic incision and surgical repair via midsternal incision are sufficiently safe procedures for the treatment of isolated perimembranous VSD and can achieve satisfactory early clinical efficacy. Both device approaches have the advantages of a quick recovery and good cosmetic appearance of the incision.

Copyright © 2019 Elsevier B.V. All rights reserved.

Int J Cardiol: 21 Nov 2019; epub ahead of print
Dai XF, Chen Q, Zhang GC, Chen LW
Int J Cardiol: 21 Nov 2019; epub ahead of print | PMID: 31785954
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Impact:
Abstract

Initial experience with transcatheter pacemaker implantation for adults with congenital heart disease.

Russell MR, Galloti R, Moore JP
Background
Transvenous pacemaker systems have significant advantages over epicardial systems in patients with congenital heart disease (CHD). Frequently though, unique anatomic challenges preclude the use of transvenous leads. Although originally developed for patient with normal anatomy, leadless pacemaker systems have enormous potential in the CHD population.
Objective
To describe an initial experience with leadless pacemaker implantation in adult patients with CHD who were not the candidates for traditional transvenous pacing.
Methods
This was a retrospective review of the experience with Micra Transcatheter Pacing System implantation in adult patients with CHD. Patient demographics, clinical history, pacing indications, procedural details, clinical outcomes, and pacing characteristics at follow-up are reported.
Results
Three patients with intracardiac shunts or tricuspid valve disorders who underwent leadless pacemaker placement are described. Pacing indications included sinus node dysfunction in two and permanent atrial fibrillation with atrioventricular (AV) block in one. There were no procedural or thromboembolic complications over the follow-up period. Pacing characteristics were acceptable and ventricular pacing burden remained low except for the single patient with AV block.
Conclusions
Leadless pacemaker systems are a viable pacing option for appropriately selected adult patients with CHD when transvenous pacing is not a suitable option.

© 2019 Wiley Periodicals, Inc.

J Cardiovasc Electrophysiol: 30 Jul 2019; 30:1362-1366
Russell MR, Galloti R, Moore JP
J Cardiovasc Electrophysiol: 30 Jul 2019; 30:1362-1366 | PMID: 31045294
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Impact:
Abstract

Cardiac Resynchronization Therapy Response Assessment with Electromechanical Activation Mapping within 24 Hours of Device Implantation: A Pilot Study.

Melki L, Wang DY, Grubb CS, Weber R, ... Garan H, Konofagou EE
Background
Cardiac resynchronization therapy (CRT) response assessment relies on the QRS complex narrowing criterion. Yet one third of patients do not improve despite narrowed QRS after implantation. Electromechanical wave imaging (EWI) is a quantitative echocardiography-based technique capable of noninvasively mapping cardiac electromechanical activation in three dimensions. The aim of this exploratory study was to investigate the EWI technique, sensitive to ventricular dyssynchrony, for informing CRT response on the day of implantation.
Methods
Forty-four patients with heart failure with left bundle branch block or right ventricular (RV) paced rhythm and decreased left ventricular ejection fraction (LVEF; mean, 25.3 ± 9.6%) underwent EWI without and with CRT within 24 hours of device implantation. Of those, 16 were also scanned while in left ventricular (LV) pacing. Improvement in LVEF at 3-, 6-, or 9-month follow-up defined (1) super-responders (ΔLVEF ≥ 20%), (2) responders (10% ≤ ΔLVEF < 20%), and (3) nonresponders (ΔLVEF ≤ 5%). Three-dimensionally rendered electromechanical maps were obtained under RV, LV, and biventricular CRT pacing conditions. Mean RV free wall and LV lateral wall activation times were computed. The percentage of resynchronized myocardium was measured by quantifying the percentage of the left ventricle activated within 120 msec of QRS onset. Correlations between percentage of resynchronized myocardium and type of CRT response were assessed.
Results
LV lateral wall activation time was significantly different (P ≤ .05) among all three pacing conditions in the 16 patients: LV lateral wall activation time with CRT in biventricular pacing (73.1 ± 17.6 msec) was lower compared with LV pacing (89.5 ± 21.5 msec) and RV pacing (120.3 ± 17.8 msec). Retrospective analysis showed that the percentage of resynchronized myocardium with CRT was a reliable response predictor within 24 hours of implantation for significantly (P ≤ .05) identifying super-responders (n = 7; 97.7 ± 1.9%) from nonresponders (n = 17; 89.9 ± 9.9%).
Conclusion
Electromechanical activation mapping constitutes a valuable three-dimensional visualization tool within 24 hours of implantation and could potentially aid in the timely assessment of CRT response rates, including during implantation for adjustment of lead placement and pacing outcomes.

Copyright © 2021 American Society of Echocardiography. Published by Elsevier Inc. All rights reserved.

J Am Soc Echocardiogr: 29 Jun 2021; 34:757-766.e8
Melki L, Wang DY, Grubb CS, Weber R, ... Garan H, Konofagou EE
J Am Soc Echocardiogr: 29 Jun 2021; 34:757-766.e8 | PMID: 33675941
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Impact:
Abstract

Reference Values of Carotid Ultrafast Pulse-Wave Velocity: A Prospective, Multicenter, Population-Based Study.

Yin LX, Ma CY, Wang S, Wang YH, ... Ren WD, Study Investigators
Background
Ultrafast ultrasound imaging has been demonstrated to be an effective method to evaluate carotid stiffness through carotid pulse-wave velocity (PWV) with high reproducibility, but a lack of reference values has precluded its widespread use in clinical practice. The aims of this study were to establish reference values of PWV for ultrafast ultrasound imaging in a prospective, multicenter, population-based cohort study and to investigate the main determinants of carotid PWV.
Methods
A total of 1,544 healthy Han Chinese volunteers (581 men [38%]; age range, 18-95 years) were enrolled from 32 collaborating laboratories in China. The participants were categorized by age, blood pressure (BP), and body mass index (BMI). Basic clinical parameters and carotid PWV at the beginning of systole (BS) and at end-systole (ES) were measured using ultrafast ultrasound imaging techniques.
Results
PWV at both BS and ES was significantly higher in the left carotid artery than in the right carotid artery. PWV at BS was significantly higher in men than in women; however, no significant difference was noted in PWV at ES between men and women. Multiple linear regression analyses revealed that age, BP, and BMI were independently correlated with PWV at both BS and ES. PWV at BS and ES progressively increased with increases in age, BP, and BMI. Furthermore, age- and sex-specific reference values of carotid PWV for ultrafast ultrasound imaging were established.
Conclusions
Reference values of carotid PWV for ultrafast ultrasound imaging, stratified by sex and age, were determined for the first time. Age, BP, and BMI were the dominant determinants of carotid PWV for ultrafast ultrasound imaging, which should be considered in clinical practice for assessing arterial stiffness.

Copyright © 2021 American Society of Echocardiography. Published by Elsevier Inc. All rights reserved.

J Am Soc Echocardiogr: 30 May 2021; 34:629-641
Yin LX, Ma CY, Wang S, Wang YH, ... Ren WD, Study Investigators
J Am Soc Echocardiogr: 30 May 2021; 34:629-641 | PMID: 33422666
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Impact:
Abstract

Serial changes in longitudinal strain are associated with outcome in children with hypoplastic left heart syndrome.

Borrelli N, Di Salvo G, Sabatino J, Ibrahim A, ... Fraisse A, Michielon G
Introduction
Hypoplastic Left Heart Syndrome (HLHS) has high mortality and morbidity and systemic right ventricle (RV) dysfunction may play a key-role. Study aim is to evaluate the accuracy of speckle-tracking echocardiographic (STE) assessment of RV deformation and 2D standard echo parameters in predicting outcome in HLHS patients.
Methods
We studied 27 HLHS patients (17 male) who successfully completed Norwood palliation. All the patients underwent in-hospital interstage stay. Serial echocardiographic assessment was performed: baseline, one-month after Norwood, three-months after Norwood, one-week before bidirectional cavopulmonary anastomosis (BCPA) and two-months after BCPA. From the apical view we measured: tricuspid annulus peak systolic excursion (TAPSE), fractional area change (FAC), longitudinal strain (LS) and strain rate (LSR).
Results
After a mean follow-up of 1.18 (± 1.16) years, 8 out of 27 of the included patients met the composite endpoint of death/heart transplant (HT). At pre-Norwood assessment, there was no difference in echo measurements between survivors and patients with events. In death/HT group TAPSE and LS declined already one-month after Norwood procedure: TAPSE ≤5 mm had good sensitivity (85.71%) and moderate specificity (63.16%) for death/HT (AUC = 0.767); a decrease of LS > 8.7% vs baseline showed 100% sensitivity and 84.21% specificity for death/HT (AUC = 0.910). At multivariate analysis, one-month-after-Norwood LS drop >8.7% was the best predictor of outcome (P = 0.01).
Conclusions
RV dysfunction in HLHS carries prognostic value. Our findings encourage serial measurements of RV function to identify the subgroup of HLHS patients at higher risk. In our experience, ∆ LS showed the best predictive value.

Copyright © 2020. Published by Elsevier B.V.

Int J Cardiol: 14 Oct 2020; 317:56-62
Borrelli N, Di Salvo G, Sabatino J, Ibrahim A, ... Fraisse A, Michielon G
Int J Cardiol: 14 Oct 2020; 317:56-62 | PMID: 32505372
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Abstract

Percutaneous mitral valve repair in adults with congenital heart disease: Report of the first case-series.

Alshawabkeh L, Mahmud E, Reeves R
Background
Systemic atrioventricular valve regurgitation (AVVR) is frequently encountered in adults with congenital heart disease (CHD). Surgical intervention is the mainstay of therapy, but in a specific high-risk subset, percutaneous valve repair might offer a lower-risk alternative.
Methods
Three patients with complex CHD and severe symptomatic AVVR underwent percutaneous mitral valve repair at a single center. All were deemed to be high-risk for surgery by a multidisciplinary CHD team and provided informed consent for the compassionate use of the MitraClip (Abbott, Santa Clara, CA). Three-dimensional heart models were generated for the procedure, which was performed by an adult CHD cardiologist (who provided imaging support) and an interventional cardiologist with expertise in CHD and percutaneous mitral valve repair.
Results
The first case was a 39 year-old-woman with [S,L,D] dextrocardia, double outlet right ventricle, mild tricuspid hypoplasia, and a secundum atrial septal defect, who was palliated at age 35 with a right bidirectional Glenn and later developed severe, symptomatic mitral regurgitation, and underwent placement of one MitraClip XTR device. Two patients with L-loop transposition of the great arteries each successfully underwent placement of two MitraClip XTR devices; one patient had a single-leaflet detachment of one of the clips with no change in regurgitation or clip position on follow-up. All patients had significant reduction of AVVR and improvement in NYHA functional class.
Conclusions
Percutaneous atrioventricular valve repair in adults with CHD is feasible with the MitraClip but requires significant preprocedural planning and a multidisciplinary team that combines CHD and interventional therapeutic expertise.

© 2020 Wiley Periodicals LLC.

Catheter Cardiovasc Interv: 14 Feb 2021; 97:542-548
Alshawabkeh L, Mahmud E, Reeves R
Catheter Cardiovasc Interv: 14 Feb 2021; 97:542-548 | PMID: 32898313
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Abstract

Dynamic Three-Dimensional Geometry of the Tricuspid Valve Annulus in Hypoplastic Left Heart Syndrome with a Fontan Circulation.

Nguyen AV, Lasso A, Nam HH, Faerber J, ... Fichtinger G, Jolley MA
Background
Tricuspid regurgitation (TR) is a significant contributor to morbidity and mortality in patients with hypoplastic left heart syndrome. The goal of this study was to characterize the dynamic annular motion of the tricuspid valve in patients with HLHS with a Fontan circulation and assess the relation to tricuspid valve function.
Methods
Tricuspid annuli of 48 patients with HLHS with a Fontan circulation were modeled at end-diastole, mid-systole, end-systole, and mid-diastole using transthoracic three-dimensional echocardiography and custom code in 3D Slicer. The angle of the anterior papillary muscle (APM) relative to the annular plane in each systolic phase was also measured.
Results
Imaging was performed 5.0 years (interquartile range, 2-11 years) after Fontan operation. The tricuspid annulus varies in shape significantly throughout the cardiac cycle, changing in sphericity (P < .001) but not in annular height or bending angle. In univariate modeling, patients with significant TR had larger changes in septolateral diameter, lateral quadrant area, and posterior quadrant area (P < .05 for all) as well as lower (more laterally directed) APM angles (P < .001) than patients with mild or less TR. In multivariate modeling, a 1 mm/(body surface area) increase in the maximum change in septolateral diameter was associated with a 1.7-fold increase in having moderate or greater TR, while a 10° decrease in APM angle at mid-systole was associated with an almost 2.5-fold increase in moderate or greater TR (P ≤ .01 for all).
Conclusions
The tricuspid annulus in patients with HLHS with a Fontan circulation changes in shape significantly throughout the cardiac cycle but remains relatively planar. Increased change in septolateral diameter and decreased APM angle are strongly associated with the presence of TR. These findings may inform annuloplasty methods and subvalvular interventions in these complex patients.

Copyright © 2019 American Society of Echocardiography. Published by Elsevier Inc. All rights reserved.

J Am Soc Echocardiogr: 30 Dec 2018; 32:655-666.e13
Nguyen AV, Lasso A, Nam HH, Faerber J, ... Fichtinger G, Jolley MA
J Am Soc Echocardiogr: 30 Dec 2018; 32:655-666.e13 | PMID: 30826226
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Abstract

The ACTN3 577XX Null Genotype Is Associated with Low Left Ventricular Dilation-Free Survival Rate in Patients with Duchenne Muscular Dystrophy.

Nagai M, Awano H, Yamamoto T, Bo R, Matsuo M, Iijima K
Background
Duchenne muscular dystrophy (DMD) is a fatal progressive muscle-wasting disease caused by mutations in the DMD gene. Dilated cardiomyopathy is the leading cause of death in DMD; therefore, further understanding of this complication is essential to reduce morbidity and mortality.
Methods
A common null variant (R577X) in the ACTN3 gene, which encodes α-actinin-3, has been studied in association with muscle function in healthy individuals; however it has not yet been examined in relationship to the cardiac phenotype in DMD. In this study, we determined the ACTN3 genotype in 163 patients with DMD and examined the correlation between ACTN3 genotypes and echocardiographic findings in 77 of the 163 patients.
Results
The genotypes 577RR(RR), 577RX(RX) and 577XX(XX) were identified in 13 (17%), 44 (57%) and 20 (26%) of 77 patients, respectively. We estimated cardiac involvement-free survival rate analyses using Kaplan-Meier curves. Remarkably, the left ventricular dilation (> 55 mm)-free survival rate was significantly lower in patients with the XX null genotype (P < 0.01). The XX null genotype showed a higher risk for LV dilation (hazard ratio 9.04).
Conclusions
This study revealed that the ACTN3 XX null genotype was associated with a lower left ventricular dilation-free survival rate in patients with DMD. These results suggest that the ACTN3 genotype should be determined at the time of diagnosis of DMD to improve patients\' cardiac outcomes.

Copyright © 2020 Elsevier Inc. All rights reserved.

J Card Fail: 29 Sep 2020; 26:841-848
Nagai M, Awano H, Yamamoto T, Bo R, Matsuo M, Iijima K
J Card Fail: 29 Sep 2020; 26:841-848 | PMID: 32791185
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