Preferred Label : Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial
dysfunction and/or dilated cardiomyopathy;
Symbol : CPVT1;
CISMeF acronym : CPVT1; VTSIP;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Ventricular tachycardia, stress-induced polymorphic 1; VTSIP; VTSIP1;
Description : Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic
disorder of the heart characterized by a reproducible form of polymorphic ventricular
tachycardia induced by physical activity, stress, or catecholamine infusion, which
can deteriorate into ventricular fibrillation. Patients present with recurrent syncope,
seizures, or sudden death after physical activity or emotional stress. Typically,
clinical cardiologic examinations, such as baseline ECG and echocardiogram, reveal
mostly normal findings, and postmortem examinations, when carried out, have not disclosed
any significant morphologic alterations in the fine structure of the heart, with the
exception of mild fatty myocardial infiltration in a few patients. The hallmark of
CPVT comprises ventricular arrhythmias of varying morphology not present under resting
conditions but appearing only with physical exercise, excitement, or catecholamine
administration. These arrhythmias are first seen as ventricular premature complexes,
later in bigeminy, followed by bidirectional or polymorphic ventricular tachycardia,
which eventually leads to ventricular fibrillation. CPVT can be inherited as an autosomal
dominant or recessive trait. Clinical penetrance in this disease ranges from 25 to
100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more
than half of the patients. When untreated, mortality from CPVT is high, reaching 30
to 50% by the age of 30 years. Beta-blockers without sympathomimetic activity are
clinically effective in the reduction of syncope, but implantation of an automatic
internal defibrillator is occasionally needed in these patients (summary by Bhuiyan
et al., 2007). - Genetic Heterogeneity of Catecholaminergic Polymorphic Ventricular
Tachycardia;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the ryanodine receptor-2 gene (RYR2, 180902.0001);
Prefixed ID : #604772;
Origin ID : 604772;
UMLS CUI : C1631597;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
