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GENATLAS PHENOTYPE

last update : 09-09-2010

Symbol	ARVD9
Location	12p11.21
Name	arrhythmogenic right ventricular dysplasia, familial, 9
Other name(s)	arrhythmogenic right ventricular cardiomyopathy 9
Corresponding gene	PKP2
Other symbol(s)	ARVC9, ARVC
Main clinical features	characterized by an early onset, highly variable phenotype including ventricular tachycardia, supraventricular arrhythmias, right heart failure or asymptomatic cardiomegaly with a high risk of sudden death, morphologically a gradual loss of myocytes initiating in the epicardium of right ventricular, replaced by adipose and fibrous tissue, thinning of the wall cardiac disorder characterized by life-threatening ventricular arrhythmias and fibrofatty replacement of myocardial tissue
Genetic determination	autosomal dominant
Function/system disorder	cardiovascular
Type	disease

Gene product

Name	plakophillin 2

Remark(s)