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GENATLAS PHENOTYPE
last update : 17-10-2023
Symbol ARVD15
Location 7q32.1
Name arrhythmogenic right ventricular dysplasia, familial 15
Other name(s)
  • cardiomyopathy, familial restrictive 5
  • cardiomyopathy, dilated 1PP
    • Corresponding gene FLNC
    Other symbol(s) RCM5, CMD1PP
    Main clinical features
  • hypertrophic, restrictive, dilated, or arrhythmogenic right ventricular cardiomyopathy, with risk for arrhythmias and sudden death
  • also arrhythmias without cardiomyopathy, and left ventricular noncompaction
  • and ventricular dilation, systolic dysfunction, and myocardial fibrosis
  • inferolateral negative T waves and low QRS voltages on electrocardiography, ventricular arrhythmias and frequent sudden cardiac death ; no clinical skeletal myopathy
    • Genetic determination autosomal dominant
    Related entries including cardiomyopathy, familial hypertrophic, 26
    Function/system disorder cardiovascular
    Type disease
    Remark(s) . truncating mutations in FLNC caused an overlapping phenotype of dilated and left-dominant arrhythmogenic cardiomyopathies complicated by frequent premature sudden death (PMID: 27908349))
  • missense variant in a highly conserved residue of FLNC (filamin C; p.V2297M) associated with Restrictive cardiomyopathy (RCM) (PMID: 29212899))