Gene: [02q32/ARVD4] arrhythmogenic right ventricular dysplasia 4;
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COM |
In studies of 3 families, Rampazzo et al. mapped a fourth ARVD locus to 2q32.1-q32.3, within the chromosomal region including markers D2S152, D2S103, and D2S389 (Rampazzo-1997). Affected members of the 3 families showed clinical features typical of ARVD according to the diagnostic criteria of McKenna-1994. One family had been previously described by Kirsch-1993. Two instances of juvenile sudden death had occurred and had been found at autopsy to be the result of ARVD. The families were considered unusual in the finding of localized involvement of the left ventricle with left bundle branch block in some affected members." |
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PAT |
Autosomal dominant arrhythmogenic right ventricular dysplasia is a genetically heterogeneous cardiomyopathy that often causes sudden death in juveniles and athletes." |
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REF |
PAT,TER "Kirsch LR &: Chest, 104, 298-300, 1993 PAT,MGC "McKenna WJ &: Brit Heart J, 71, 215-218, 1994 PAT,LOC,LIN "Rampazzo A &: Genomics, 45, 259-263, 1997 |
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KEY |
card |
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CLA |
unknown, basic |
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LOC |
02 q32 |
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MIM |
MIM: 602087 |
