familial isolated arrhythmogenic right ventricular dysplasia
Findings
No curated finding names familial isolated arrhythmogenic right ventricular dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms.
Definition from the Mondo Disease Ontology (MONDO:0016342), read 2026-09-29. CC BY 4.0.
Genes
1 gene
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.
- DSC2HGNC:3036
- Definitive · ClinGen · Autosomal dominant · 2018
Where it sits
- Narrower terms (16)
- arrhythmogenic right ventricular dysplasia 1
- arrhythmogenic right ventricular dysplasia 10
- arrhythmogenic right ventricular dysplasia 11
- arrhythmogenic right ventricular dysplasia 12
- arrhythmogenic right ventricular dysplasia 13
- arrhythmogenic right ventricular dysplasia 3
- arrhythmogenic right ventricular dysplasia 4
- arrhythmogenic right ventricular dysplasia 5
- arrhythmogenic right ventricular dysplasia 6
- arrhythmogenic right ventricular dysplasia 8
- arrhythmogenic right ventricular dysplasia 9
- arrhythmogenic right ventricular dysplasia, familial, 14
- catecholaminergic polymorphic ventricular tachycardia 1
- familial isolated arrhythmogenic ventricular dysplasia, biventricular form
- familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Other names
5 names
Resolves to: familial isolated arrhythmogenic right ventricular dysplasia
- Also called
- familial isolated arrhythmogenic right ventricular cardiomyopathyfamilial isolated arrhythmogenic ventricular cardiomyopathyfamilial isolated arrhythmogenic ventricular dysplasiafamilial isolated ARVCfamilial isolated ARVD