ArticleJournal of the American Heart Association2020
Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene.
Article in Journal of the American Heart Association, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 68 citations in OpenAlex.
- Colchicine in patients with chronic inflammatory cardiomyopathy: rationale and design of the CMP-MYTHiC.ESC heart failure · 2026Trial
- Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis.Circulation. Genomic and precision medicine · 2021Trial
- Global epidemiology of myocarditis: disparities in age, sex and geography.Nature reviews. Cardiology · 2026Review
- From inflammation to inheritance: rethinking myocarditis as the first signal of desmosomal cardiomyopathy.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2026Review
- Insights Into the Natural History of Recurrent Myocarditis, A Multicenter International Study (Re-Myo Study).Journal of the American Heart Association · 2026Observational
- Recurrent myocarditis as a clinical gateway to desmoplakin cardiomyopathy: a case report.European heart journal. Case reports · 2026Article
- Myocarditis in the Modern Era: Navigating Diagnosis, Innovative Treatments, the COVID-19 Challenge and the Role of Artificial Intelligence.Cardiology research and practice · 2026Review
- Inflammatory Features in Homozygous DSG2 Cardiomyopathy Mimicking Cardiac Sarcoidosis.JACC. Case reports · 2025Article
- Genomics of pediatric cardiomyopathy.Pediatric research · 2025Review
- Clinical features and outcomes in carriers of pathogenic desmoplakin variants.European heart journal · 2025Article
- Review
- A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers.European heart journal · 2024Article
- Neonatal Enterovirus-Associated Myocarditis in Dizygotic Twins: Myocardial Longitudinal Strain Pattern Analysis.Children (Basel, Switzerland) · 2024Article
- Myocarditis in Athletes: Risk Factors and Relationship with Strenuous Exercise.Sports medicine (Auckland, N.Z.) · 2024Review
- Pathogenic truncating filamin C mutations presenting as acute myocarditis: a case series with insights from cardiac magnetic resonance and histological analysis.European heart journal. Case reports · 2024Article
- Inflammation-A Possible Link between Myocarditis and Arrhythmogenic Cardiomyopathy.Diagnostics (Basel, Switzerland) · 2024Article
- Inherited Arrhythmias in the Pediatric Population: An Updated Overview.Medicina (Kaunas, Lithuania) · 2024Review
- The role of genetic testing in suspected fulminant myocarditis: A case report.Molecular genetics and metabolism reports · 2023Article
- Arrhythmogenic left ventricular cardiomyopathy caused by a novel likely pathogenic DSP mutation, p.K1165Rfs*8, in a family with sudden cardiac death.BMC medical genomics · 2023Article
- Diagnostic Approach for Suspected Acute Myocarditis: Considerations for Standardization and Broadening Clinical Spectrum.Journal of the American Heart Association · 2023Review
Corrections and comments
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Authors and funding
19 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background Variants of the desmosomal protein desmoplakin are associated with arrhythmogenic cardiomyopathy, an important cause of ventricular arrhythmias in children and young adults. Disease penetrance of desmoplakin variants is incomplete and variant carriers may display noncardiac, dermatologic phenotypes. We describe a novel cardiac phenotype associated with a truncating desmoplakin variant, likely causing mechanical instability of myocardial desmosomes. Methods and Results In 2 young brothers with recurrent myocarditis triggered by physical exercise, screening of 218 cardiomyopathy-related genes identified the heterozygous truncating variant p.Arg1458Ter in desmoplakin. Screening for infections yielded no evidence of viral or nonviral infections. Myosin and troponin I autoantibodies were detected at high titers. Immunohistology failed to detect any residual DSP protein in endomyocardial biopsies, and none of the histologic criteria of arrhythmogenic cardiomyopathy were fulfilled. Cardiac magnetic resonance imaging revealed no features associated with right ventricular arrhythmogenic cardiomyopathy, but multifocal subepicardial late gadolinium enhancement was present in the left ventricles of both brothers. Screening of adult cardiomyopathy cohorts for truncating variants identified the rare genetic variants p.Gln307Ter, p.Tyr1391Ter, and p.Tyr1512Ter, suggesting that over subsequent decades critical genetic/exogenous modifiers drive pathogenesis from desmoplakin truncations toward different end points. Conclusions The described novel phenotype of familial recurrent myocarditis associated with a desmoplakin truncation in adolescents likely represents a serendipitously revealed subtype of arrhythmogenic cardiomyopathy. It may be caused by a distinctive adverse effect of the variant desmoplakin upon the mechanical stability of myocardial desmosomes. Variant screening is advisable to allow early detection of patients with similar phenotypes.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.