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GENATLAS PHENOTYPE

last update : 17-11-2012

Symbol	VTSIP1
Location	1q43
Name	ventricular tachycardia stress-induced polymorphic 1
Other name(s)	catecholaminergic polymorphic ventricular tachycardia
Corresponding gene	RYR2
Other symbol(s)	CPVT1
Main clinical features	ventricular arrhythmias elicited exclusively under adrenergic stress bradycardia, which could direct molecular diagnosis in patients without structural heart disease presenting with syncopal events and a slow heart rate but with normal QTc at resting ECG, causing juvenile sudden death
Genetic determination	autosomal dominant
Function/system disorder	cardiovascular
Type	disease

Gene product

Name	ryanodine receptor 2

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense			most in in the calcium-binding /TM domain

Remark(s)

chronic hyperadrenergic state of heart failure is associated with defective Ca2+ signaling in part due to PKA hyperphosphorylation of RyR2 defective interaction between RYR2 and calmodulin is part of the pathogenic mechanism for CPVT

Genotype/Phenotype correlations

large genomic deletion in RYR2, leads to extended clinical phenotypes (eg, sinoatrial node and atrioventricular node dysfunction, atrial fibrillation, atrial standstill, and dilated cardiomyopathy)