Elsevier

JACC: Heart Failure

Volume 10, Issue 10, October 2022, Pages 714-727
JACC: Heart Failure

Clinical Research
Acute Myocarditis Associated With Desmosomal Gene Variants

https://doi.org/10.1016/j.jchf.2022.06.013Get rights and content
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Abstract

Background

The risk of adverse cardiovascular events in patients with acute myocarditis (AM) and desmosomal gene variants (DGV) remains unknown.

Objectives

The purpose of this study was to ascertain the risk of death, ventricular arrhythmias, recurrent myocarditis, and heart failure (main endpoint) in patients with AM and pathogenic or likely pathogenetic DGV.

Methods

In a retrospective international study from 23 hospitals, 97 patients were included: 36 with AM and DGV (DGV[+]), 25 with AM and negative gene testing (DGV[−]), and 36 with AM without genetics testing. All patients had troponin elevation plus findings consistent with AM on histology or at cardiac magnetic resonance (CMR). In 86 patients, CMR changes in function and structure were re-assessed at follow-up.

Results

In the DGV(+) AM group (88.9% DSP variants), median age was 24 years, 91.7% presented with chest pain, and median left ventricular ejection fraction (LVEF) was 56% on CMR (P = NS vs the other 2 groups). Kaplan-Meier curves demonstrated a higher risk of the main endpoint in DGV(+) AM compared with DGV(−) and without genetics testing patients (62.3% vs 17.5% vs 5.3% at 5 years, respectively; P < 0.0001), driven by myocarditis recurrence and ventricular arrhythmias. At follow-up CMR, a higher number of late gadolinium enhanced segments was found in DGV(+) AM.

Conclusions

Patients with AM and evidence of DGV have a higher incidence of adverse cardiovascular events compared with patients with AM without DGV. Further prospective studies are needed to ascertain if genetic testing might improve risk stratification of patients with AM who are considered at low risk.

Key Words

acute myocarditis
cardiac magnetic resonance
desmoplakin
desmosomal gene variants
prognosis

Abbreviations and Acronyms

AM
acute myocarditis
CMR
cardiac magnetic resonance
DGV
desmosomal gene variant
EF
ejection fraction
LGE
late gadolinium enhancement
LV
left ventricle/ventricular
LVEF
left ventricular ejection fraction
RV
right ventricle/ventricular
RVEF
right ventricular ejection fraction
VF
ventricular fibrillation
VT
ventricular tachycardia

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The authors attest they are in compliance with human studies committees and animal welfare regulations of the authors’ institutions and Food and Drug Administration guidelines, including patient consent where appropriate. For more information, visit the Author Center.

Drs Ammirati and Raimondi share first authorship.

Drs Camici and Cooper share senior authorship.