Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 17/03/2006
Symbol ARVD2
Location 1q43
HGNC id 730
Name arrhythmogenic right ventricular dysplasia, familial, 2
Other name(s)
  • catecholaminergic polymorphic ventricular tachycardia
  • arrhythmogenic right ventricular cardiomyopathy 2
    • Corresponding gene RYR2
    Other symbol(s) CPVT
    Main clinical features
  • characterized by an early onset, highly variable phenotype including ventricular tachycardia, supraventricular arrhytmias, right heart failure or asymptomatic cardiomegaly with a high risk of juvenile 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
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type disease
    Gene product
    Name ryanodine receptor 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     mutations increasing RyR2-mediated calcium release to cytoplasm
    Remark(s)