May 15, 2026Journal of the American College of Cardiology
Genetics of Arrhythmogenic Right Ventricular Cardiomyopathy
Key result
Desmosomal mutations explain only ~30-50% of ARVC cases, frequently involving compound or digenic heterozygosity.
Design
Review
Authors
Discussion
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Implication
May support broader genetic testing in ARVC; leaves open discovery of additional causative genes.
Key Points
- To explore the genetic complexity of arrhythmogenic right ventricular cardiomyopathy and identify previously unknown genetic defects.
- Analyzed known desmosomal gene mutations associated with ARVC
- Examined family histories for genetic defects among affected individuals and relatives
- Advised genetic testing for first-degree relatives if a known defect exists
- 30% to 50% of ARVC patients have identifiable desmosomal gene mutations
- Presence of multiple genetic defects often observed, suggesting compound and digenic heterozygosity
- Genetic counseling recommended for family members of ARVC probands to discuss risks and testing options
Structured PICO
P
Population
Patients with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and their family members
I
Intervention
Genetic testing and counseling
Highlights the complex genetics of ARVC and emphasizes that cascade genetic testing in family members is only useful when a causative mutation is identified in the proband.
Cite This Study
Marcus et al. (2013) conducted a review in Arrhythmogenic right ventricular cardiomyopathy (ARVC). Genetic testing was evaluated. Genetic mutations in 5 causative desmosomal genes account for only 30% to 50% of patients with arrhythmogenic right ventricular cardiomyopathy, with compound or digenic heterozygosity frequently seen.