Clinical Investigation
Fetal and Pediatric Echocardiography
Serial Assessment of Cardiac Function and Pulmonary Hemodynamics in Infants With Down Syndrome

https://doi.org/10.1016/j.echo.2022.07.012Get rights and content

Highlights

  • Pulmonary hypertension is common in neonates with DS.

  • Infants with DS demonstrate sustained impairment of cardiac function.

  • Those changes persist through 2 years irrespective of congenital cardiac disease.

  • Long-term cardiovascular follow-up for individuals with DS is prudent.

Background

There is a dearth of longitudinal data describing the evolution of cardiopulmonary hemodynamics in infants with Down syndrome (DS) beyond infancy. We hypothesized that babies with DS, independent of the presence of congenital heart disease (CHD), demonstrate biventricular systolic and diastolic impairment and sustained elevation of pulmonary pressures compared with controls over the first 2 years of age.

Methods

This was a prospective observational cohort study of 70 infants with DS (48 with CHD and 22 without CHD) and 60 controls carried out in 3 tertiary neonatal intensive care units in Dublin, Ireland. Infants with DS with and without CHD and non-DS controls underwent serial echocardiograms at birth, 6 months, 1 year, and 2 years of age to assess biventricular systolic and diastolic function using deformation analysis. Pulmonary vascular resistance was assessed using pulmonary artery acceleration time and left ventricular (LV) eccentricity index.

Results

Infants with DS exhibited smaller LV (birth: 27 ± 4 vs 31 ± 2 mm, P < .01; 2 years: 43 ± 5 vs 48 ± 4 mm, P < .01) and right ventricular (birth: 28 ± 3 vs 31 ± 2 mm, P < .01; 2 years: 40 ± 4 vs 44 ± 3 mm, P < .01) lengths and lower LV (birth: –19% ± 3% vs –22% ± 2%, P < .01; 2 years: –24% ± 2% vs –26% ± 2%, P < .01) and right ventricular (birth: –19% ± 4% vs –22% ± 3%, P < .01; 2 years: –29% ± 6% vs –33% ± 4%, P < .01) systolic strain over the 2-year period. Pulmonary artery acceleration time was lower in the DS group throughout the study period (birth: 44 ± 10 vs 62 ± 14 ms, P < .01; 2 years 71 ± 12 vs 83 ± 11 ms, P < .01). No differences were observed between DS infants with and without CHD (all P > .05).

Conclusions

Infants with DS exhibit impaired maturational changes in myocardial function and pulmonary vascular resistance. Such novel findings provide valuable insights into the pathophysiology affecting cardiorespiratory morbidity in this population.

Section snippets

Participants

This was a prospective, observational cohort study performed across 3 tertiary neonatal intensive care units of Dublin, Ireland, between July 2018 and March 2020: the Rotunda Hospital; the National Maternity Hospital, Holles Street; and the Coombe Women and Infants University Hospital. Each neonatal unit delivers 8,000 to 8,500 infants annually. All infants with an antenatal or postnatal (later confirmed with karyotyping) diagnosis of DS were eligible for inclusion. All potentially eligible

Clinical Outcomes of Infants With DS Over the First 2 Years of Age

One hundred thirty infants were enrolled into this study, comprising 70 infants with DS and 60 control infants. During the study period an estimated 113 infants were born with a diagnosis of DS. Twelve had a surgical comorbidity, 17 were not enrolled due to investigator unavailability, 7 were not approached at the attending neonatologist’s request, and 7 parents did not provide consent. Offline analysis was possible on all available echocardiograms from this cohort. The antenatal detection rate

Discussion

Our study demonstrates sustained abnormal elevation of surrogates of pulmonary pressures and impaired systolic and diastolic function in infants with DS compared with controls over the first 2 years of age. Surrogate indices of PH and myocardial performance are negatively impacted in babies with DS irrespective of structural cardiac disease. Infants with DS undergoing surgical repair exhibit additional impairment in LV and RV function. Infants with DS displayed shorter RV and LV lengths over

Conclusion

This study has demonstrated sustained abnormal elevation of surrogate markers of PH and impaired systolic and diastolic function in infants with DS compared with controls over the first 2 years of age. The observation that surrogate indices of PH and myocardial performance are negatively impacted in babies with DS irrespective of structural cardiac disease is a nuance that is missing in the currently available literature. Our work highlights that the DS infant population, who have an increased

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  • Cited by (0)

    Conflicts of Interest: None.

    This work received funding from the Health Research Board Ireland (NCHF-2017-005) and the National Children's Research Centre (D/17/7). The funding sources had no role in the design or conduct of the study; collection, management, analysis, or interpretation of the data; preparation, review, or approval of the manuscript; or decision to submit the manuscript for publication.

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