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References OMIM Gene GeneReviews HGMD HGNC
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