catecholaminergic polymorphic ventricular tachycardia
Findings
No curated finding names catecholaminergic polymorphic ventricular tachycardia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.
Definition from the Mondo Disease Ontology (MONDO:0017990), read 2026-09-29. CC BY 4.0.
Features
10 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.
- Ventricular tachycardiaHPOHP:0004756
- Very frequent (80% to 99% of cases)
- Atrial fibrillationHPOHP:0005110
- Frequent (30% to 79% of cases)
- Cardiac arrestHPOHP:0001695
- Frequent (30% to 79% of cases)
- PalpitationsHPOHP:0001962
- Frequent (30% to 79% of cases)
- Polymorphic ventricular tachycardiaHPOHP:0031677
- Frequent (30% to 79% of cases)
- Supraventricular tachycardiaHPOHP:0004755
- Frequent (30% to 79% of cases)
- VertigoHPOHP:0002321
- Frequent (30% to 79% of cases)
- Sudden cardiac deathHPOHP:0001645
- Occasional (5% to 29% of cases)
- SyncopeHPOHP:0001279
- Occasional (5% to 29% of cases)
- Ventricular fibrillationHPOHP:0001663
- Occasional (5% to 29% of cases)
Genes
10 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.
- CASQ2HGNC:1513
- Definitive · ClinGen · Autosomal recessive · 2021
- Moderate · ClinGen · Autosomal dominant · 2021
- RYR2HGNC:10484
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2024
- TECRLHGNC:27365
- Definitive · ClinGen · Autosomal recessive · 2021
- TRDNHGNC:12261
- Definitive · ClinGen · Autosomal recessive · 2021
- HGNC:1445HGNC:1445
- · Genomics England PanelApp · Autosomal dominant · 2020
Where it sits
- A kind of
- Narrower terms (7)
- catecholaminergic polymorphic ventricular tachycardia 1
- catecholaminergic polymorphic ventricular tachycardia 2
- catecholaminergic polymorphic ventricular tachycardia 3
- catecholaminergic polymorphic ventricular tachycardia 4
- catecholaminergic polymorphic ventricular tachycardia 5
- long QT syndrome 16
- ventricular tachycardia, catecholaminergic polymorphic 6
Other names
6 names
Resolves to: catecholaminergic polymorphic ventricular tachycardia
- Also called
- bidirectional tachycardia induced by catecholamineCPVTdouble tachycardia induced by catecholaminesmalignant paroxysmal ventricular tachycardiamultifocal ventricular premature beatsventricular tachycardia, catecholaminergic polymorphic