catecholaminergic polymorphic ventricular tachycardia 1
Findings
No curated finding names catecholaminergic polymorphic ventricular tachycardia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene.
Definition from the Mondo Disease Ontology (MONDO:0011484), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
13 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.
- Bidirectional ventricular tachycardiaHPOHP:0034040
- 4 of 4 reported patients
- SyncopeHPOHP:0001279
- 8 of 9 reported patients
- Effort-induced polymorphic ventricular tachycardiaHPOHP:0004758
- 5 of 6 reported patients
- Sudden cardiac deathHPOHP:0001645
- 12 of 16 reported patients
- Atrial standstillHPOHP:0025478
- 3 of 6 reported patients
- Reduced systolic functionHPOHP:0006673
- 3 of 6 reported patients
- Dilated cardiomyopathyHPO
Show the remaining 1
- Ventricular tachycardiaHPOHP:0004756
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.
- RYR2HGNC:10484
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Disputed Evidence · Ambry Genetics · Autosomal dominant · 2020
Where it sits
Other names
11 names
Resolves to: catecholaminergic polymorphic ventricular tachycardia 1
- Also called
- arrhythmogenic right ventricular cardiomyopathy 2arrhythmogenic right ventricular dysplasia 2arrhythmogenic right ventricular dysplasia type 2arrhythmogenic right ventricular dysplasia, familial, type 2ARVC2ARVD2catecholaminergic polymorphic ventricular tachycardia type 1familial arrhythmogenic right ventricular dysplasia 2familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2RYR2 familial isolated arrhythmogenic right ventricular dysplasiaventricular tachycardia, catecholaminergic polymorphic, 1