arrhythmogenic right ventricular cardiomyopathy
Findings
No curated finding names arrhythmogenic right ventricular cardiomyopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.
Definition from the Mondo Disease Ontology (MONDO:0016587), read 2026-09-29. CC BY 4.0.
Genes
22 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DSG2HGNC:3049
- Definitive · ClinGen · Autosomal dominant · 2018
- PKP2HGNC:9024
- Definitive · ClinGen · Autosomal dominant · 2018
- DESHGNC:2770
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2018
- PLNHGNC:9080
- Moderate · ClinGen · Autosomal dominant · 2020
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- CDH2HGNC:1759
- Limited · ClinGen · Autosomal dominant · 2018
- Limited · G2P · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: arrhythmogenic right ventricular cardiomyopathy
- Also called
- arrhythmogenic right ventricular dysplasiaarrhythmogenic RVDARVDright ventricular dysplasia