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GENATLAS PHENOTYPE
last update : 04-03-2019
Symbol ARVD10
Location 18q12.1
Name arrhythmogenic right ventricular dysplasia, famililal, 10
Other name(s) arrhythmogenic right ventricular cardiomyopathy 10
Corresponding gene DSG2 , DSC2
Other symbol(s) ARVC10
Main clinical features
  • characterized by fibrofatty replacement of cardiac myocytes that typically manifests in the right ventricle, 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 epicardum of right ventricular, replaced by adipose and fibrous tissue, thinning of the wall
    • Genetic determination autosomal dominant
    autosomal recessive
    Function/system disorder cardiovascular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     disrupting known functional components of desmoglein-2
    Remark(s) mutations in desmosomal encoding genes in 40 p100 of cases confirms that many forms of arrhythmogenic right ventricular cardiomyopathy are due to alterations in the desmosome complex