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  • Title: Sudden death during exercise in a juvenile with arrhythmogenic right ventricular cardiomyopathy and desmoglein-2 gene substitution: a case report.
    Author: Sato T, Nishio H, Suzuki K.
    Journal: Leg Med (Tokyo); 2011 Nov; 13(6):298-300. PubMed ID: 22000064.
    Abstract:
    One type of arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disorder resulting in fatty replacement of the right ventricular wall and consequent fatal arrhythmias. It is a major cause of sudden death in young people. Mutations in the genes encoding desmosomal proteins have been identified as a cause of ARVC. We report a case of sudden death during exercise in a juvenile. This case showed fatty replacement of the right ventricular wall, which suggests that ARVC may have been associated with the cause of death. Further genetic analysis showed a novel homozygous R292C substitution of the desmoglein-2 gene (DSG2), which encodes a desmosomal protein. In addition to morphological examination, genetic analysis may be useful for diagnosis of ARVC-suspected autopsy cases.
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