title: Sudden death during exercise in a juvenile with arrhythmogenic right ventricular cardiomyopathy and desmoglein-2 gene substitution: a case report.
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.
authors: Department of Legal Medicine, Osaka Medical College, 2-7 Daigaku, Takatsuki, Japan.
authors: Takako
authors: T
authors: Sato
authors: Hajime
authors: H
authors: Nishio
authors: Koichi
authors: K
authors: Suzuki
mesh_terms: D000293:Adolescent; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D051301:Desmoglein 2 / Q000235:genetics*; D015444:Exercise; D017809:Fatal Outcome; D049429:Forensic Pathology; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: D051301:Desmoglein 2