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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 17/03/2006
Symbol ARVD1
Location 14q24.3
HGNC id 729
Name arrhythmogenic right ventricular dysplasia, familial, 1
Other name(s) arrhythmogenic right ventricular cardiomyopathy 1
Corresponding gene TGFB3
Other symbol(s) ARVD, ARVC1
Main clinical features
  • highly variable phenotype including ventricular tachycardia, supraventricular arrhytmias, right heart failure or asymptomatic cardiomegaly with a high risk of sudden death, morphologically a gradual loss of myocytes initiating in the epicardum of right ventricular, replaced by adipose and fibrous tissue, thinning of the wall
  • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    neuromuscular
    Type disease