Arrhythmogenic Right Ventricular Cardiomyopathy Presenting as Clinical Myocarditis in Women
Abstract
Patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) classically initially present with ventricular arrhythmias or, less commonly, heart failure. Myocardial inflammation has been implicated in pathogenesis, but clinical myocarditis in ARVC is less described. We therefore studied clinical myocarditis as an initial ARVC presentation, and hypothesized that these patients have distinct clinical and genetic characteristics. Using the Johns Hopkins ARVC Registry, we identified 12 patients (all female, median age 20) referred between 2014 and 2019 diagnosed with myocarditis at presentation who were subsequently diagnosed with ARVC by Task Force Criteria. Majority presented with chest pain (n = 7, 58%) or ventricular arrhythmia (n = 3, 25%). All patients had troponin elevations and left ventricular (LV) function was reduced in 5 (42%). Magnetic resonance imaging demonstrated LV delayed gadolinium enhancement and/or pericardial enhancement in 10 (83%); only 3 (25%) patients had right ventricular abnormalities. Pathogenic genetic variants were identified in 11 (92%) patients: 10 desmoplakin (DSP) and 1 desmoglein-2 (DSG2). Thus, nearly 1/3 (10/32, 31%) of overall DSP ARVC patients were originally diagnosed with myocarditis. Patients were diagnosed with ARVC 1.8 years (IQR 2.7 years) after presentation and 8 (75%) patients did not meet Task Force Criteria without genetic testing. ARVC diagnosis led to an additional 5 (42%) patients referred for implantable cardiac defibrillator and 17 family member diagnoses. In conclusion, ARVC may initially present as myocarditis and these patients have distinct characteristics including female gender, LV involvement and DSP gene variants. Genetic testing is key to ARVC diagnosis and should be considered in select myocarditis patients.
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ACM is frequently misdiagnosed as myocarditis.
“this disease is frequently misdiagnosed as myocarditis [18].”
From A Paradigm Shift: Arrhythmogenic Cardiomyopathy Is an Inflammatory Disease (2026) · cites this paper as [18]
Cites
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Self-citationTherapeutic Modulation of the Immune Response in Arrhythmogenic Cardiomyopathy
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Self-citationCentral role for GSK3β in the pathogenesis of arrhythmogenic cardiomyopathy
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Sex and gender differences in myocarditis and dilated cardiomyopathy: An update
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- Authors
- Scheel, P. J., Murray, B., Tichnell, C., James, C. A., Tandri, H., Calkins, H., Chelko, S. P., & Gilotra, N. A.
- Affiliations
- Johns Hopkins University (US)
- Florida State University (US)
- Corresponding author
- Gilotra, Nisha A.
- ORCID
- Venue
- The American Journal of Cardiology
- Publisher
- Elsevier BV
- Published
- 2021-04
- Volume
- 145
- Pages
- 128-134
- ISSN
- 0002-9149 (ISSN-L)
- OpenAlex
- W3120991620
- Cited by
- 62
- References
- 6
- Citations by year
- 2026: 11 · 2025: 7 · 2024: 6 · 2023: 12 · 2022: 17 · 2021: 9
- FWCI
- 7.27
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- Locations
- The American Journal of Cardiology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- American Heart Association (18TPA34170559)
- Fondation Leducq
- Johns Hopkins University
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Viral Infections and Immunology Research
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
- Keywords
- arrhythmogenic right ventricular cardiomyopathy, myocarditis, clinical features, desmoplakin, desmoglein 2, genetic variants, left ventricular involvement, troponin elevation, late gadolinium enhancement, implantable cardioverter-defibrillator, family screening, women
- MeSH terms
- Adolescent, Adult, Biopsy, Child, Diagnostic Errors, Electrocardiography, Female, Genetic Testing, Humans, Magnetic Resonance Imaging, Middle Aged, Myocarditis, Myocardium, Pedigree, Phenotype, Registries, Sex Factors, Ventricular Dysfunction, Left, Arrhythmogenic Right Ventricular Dysplasia, Early Diagnosis, Desmoplakins, Desmoglein 2, Young Adult, Delayed Diagnosis
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