arrhythmogenic right ventricular dysplasia 8
Findings
No curated finding names arrhythmogenic right ventricular dysplasia 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene.
Definition from the Mondo Disease Ontology (MONDO:0011831), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Early young adult onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Right ventricular cardiomyopathyHPOHP:0011663
- 11 of 11 reported patients
- Premature ventricular contractionHPOHP:0006682
- 5 of 11 reported patients
- Sudden cardiac deathHPOHP:0001645
- 2 of 11 reported patients
- Ventricular fibrillationHPOHP:0001663
- 2 of 11 reported patients
- Ventricular tachycardiaHPOHP:0004756
- 2 of 11 reported patients
- Congestive heart failureHPOHP:0001635
- 1 of 11 reported patients · Late onset
- Woolly hair
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.
- DSPHGNC:3052
- Definitive · G2P · Autosomal dominant · 2024
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
7 names
Resolves to: arrhythmogenic right ventricular dysplasia 8
- Also called
- arrhythmogenic right ventricular cardiomyopathy 8arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSParrhythmogenic right ventricular dysplasia type 8arrhythmogenic right ventricular dysplasia, familial, type 8ARVC8ARVD8DSP arrhythmogenic right ventricular cardiomyopathy