Genetics of Arrhythmogenic Right Ventricular Cardiomyopathy
Open accessAbstract
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically transmitted disease. However, the genetics are more complex than in other inherited conditions wherein a single gene abnormal mutation may be causative. In ARVC, 5 causative desmosomal genes have been identified, but because only 30% to 50% of patients with ARVC have 1 of these gene abnormalities, it is assumed that there are other genes not yet identified. Frequently, patients with ARVC have >1 genetic defect in the same gene (compound heterozygosity) or in a second complementary gene (digenic heterozygosity). In addition, a family member may have an ARVC gene defect and have development of the disease or have no or minimal manifestations of the disease. Clinical genetic testing is commercially available. It is beneficial for first-degree family members of a person with ARVC to have genetic testing but only if there is a known genetic abnormality in the affected person. If the affected family member (proband) with ARVC does not have a genetic defect identified, then it will not be identified in the family member. Genetic counseling is strongly advised for family members of the proband.
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AF prevalence in arrhythmogenic right ventricular cardiomyopathy is >40% in patients with VTs.
“Arrhythmogenic right ventricular cardiomyopathy Several desmosomal genes, unknown gene loci >40% in patients with VTs 867, 868”
From 2016 ESC Guidelines for the management of atrial fibrillation developed in collaboration with EACTS (2016) · cites this paper as [867]
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2016 ESC Guidelines for the management of atrial fibrillation developed in collaboration with EACTS
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2016 ESC Guidelines for the management of atrial fibrillation developed in collaboration with EACTS
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Arrhythmogenic Cardiomyopathy or “Athlete’s Heart”?
Minopoli, T. C., Kanthagnani, K., Olivotto, I., Sharma, R., Papadakis, M., Sharma, S., & Finocchiaro, G. (2025) · JACC: Clinical Electrophysiology · doi:10.1016/j.jacep.2025.08.026 · Cited by 6 · see citing works
- Authors
- Marcus, F. I., Edson, S., & Towbin, J. A.
- Affiliations
- Cincinnati Children's Hospital Medical Center (US)
- ORCID
- Towbin, Jeffrey A.
- Venue
- Journal of the American College of Cardiology
- Publisher
- Elsevier BV
- Published
- 2013-05
- Volume
- 61
- Issue
- 19
- Pages
- 1945-1948
- ISSN
- 0735-1097 (ISSN-L)
- OpenAlex
- W204018601
- Cited by
- 159
- References
- 17
- Citations by year
- 2026: 4 · 2025: 9 · 2024: 8 · 2023: 11 · 2022: 6 · 2021: 12 · 2020: 10 · 2019: 10 · 2018: 17 · 2017: 14 · 2016: 20 · 2015: 20 · 2014: 12 · 2013: 6
- FWCI
- 13.13
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Journal of the American College of Cardiology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Keywords
- arrhythmogenic right ventricular cardiomyopathy, genetic inheritance, desmosomal genes, compound heterozygosity, genetic testing, genetic counseling, family screening, probands
- MeSH terms
- Desmosomes, Genetic Testing, Humans, Genetic Heterogeneity, Arrhythmogenic Right Ventricular Dysplasia
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