Catecholaminergic polymorphic ventricular tachycardia, abbreviated CPVT, is an inherited genetic disorder that predisposes people to potentially life-threatening abnormal heart rhythms. The arrhythmias typically occur during exercise or emotional stress and classically take the form of bidirectional ventricular tachycardia or ventricular fibrillation. Those affected may have no symptoms, or may experience blackouts or sudden cardiac death. It is caused by mutations in proteins that regulate calcium in heart muscle cells, most often the RYR2 gene. It is often diagnosed from an exercise ECG or by genetic test, and is treated with beta blockers, flecainide, sympathetic denervation or an implanted defibrillator. It was first defined in 1978. This record is not medical advice.
Facts
Classification
ICD-10 ChapterIX: Diseases of the Circulatory System 2 Communicable or Non-communicable Transmission Route First Described Prevalence Band Causative Agent
Causative Agent (category) Sources
1. Catecholaminergic polymorphic ventricular tachycardia (Wikipedia)
Opening sentence
predisposes those affected to potentially life-threatening abnormal heart rhythms
Lead, second paragraph
caused by genetic mutations affecting proteins that regulate the concentrations of calcium
Lead, last paragraph
first defined in 1978
View the Source2. World Health Organization: ICD-10 Version:2019 - I30-I52 Other forms of heart disease
World Health OrganizationICD-10 2019 category I47.2Quote, ICD-10 2019 category I47.2
I47.2 Ventricular tachycardia
View the Source 3. MedlinePlus Genetics (National Library of Medicine): Catecholaminergic polymorphic ventricular tachycardia - MedlinePlus Genetics
MedlinePlus Genetics (National Library of Medicine)Causes
CPVT most commonly results from mutations in two genes, RYR2 and CASQ2 .
Description and Inheritance
When caused by mutations in other genes, CPVT can be inherited in an autosomal dominant or autosomal recessive pattern.
View the Source 4. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:3286Quote, ORPHA:3286
Point prevalence Value and class 1-5 / 10 000
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