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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
    Gene mutationChromosome rearrangementEffectComments
    missense     most in in the calcium-binding /TM domain
  • 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)