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GENATLAS PHENOTYPE
last update : 16/07/2008
Symbol ARVD8
Location 6p24.3
Name arrhythmogenic right ventricular dysplasia, familial, 8
Other name(s) arrhythmogenic right ventricular cardiomyopathy 8
Corresponding gene DSP
Other symbol(s) ARVC
Main clinical features
  • pathologic entity whose diagnosis rests on electrocardiographic and angiographic criteria
  • pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall
    • Genetic determination
    Function/system disorder cardiovascular
    Type disease
    Gene product
    Name desmoplakin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   other mutation (S299R) in exon 7, which modifies a putative phosphorylation site in the N-terminal domain binding plakoglobin
    Remark(s) mutation result in ARVD by cardiomyocyte death, changes in lipid metabolism, and defects in cardiac development