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GENATLAS PHENOTYPE

last update : 31-10-2012

Symbol	CPVT4
Location	14q32.11
Name	catecholaminergic polymorphic ventricular tachycardia 4
Corresponding gene	CALM1
Main clinical features	ventricular arrhythmias, syncope, and sudden death, predominantly in association with physical exercise or stress
Genetic determination	autosomal dominant
Function/system disorder	cardiovascular
Type	disease

Remark(s)

defective interaction between RYR2 and calmodulin is part of the pathogenic mechanism for CPVT