title: Identification of arrhythmogenic right ventricular cardiomyopathy-causing gene mutations in young sudden unexpected death autopsy cases.
abstract: Arrhythmogenic right ventricular cardiomyopathy (ARVC) results in an increased risk of sudden death. We sought mutations of desmoglein-2 (DSG2), desmoplakin (DSP), and plakophilin-2 (PKP2) in 15 cases of sudden death whose causes of death could not be determined at autopsy. In three victims, mutations were identified in DSP. Two of these mutations were novel; one had previously been reported in a patient with ARVC that had been diagnosed clinically. Histological findings were not typical of ARVC; however, it was notable that these mutations were present in three of 15 cases, a relatively high proportion. The causal relationship between the mutations and ARVC is unclear, but the mutations might have been associated with faulty desmosomal proteins resulting in fatal arrhythmia. Combining information gathered by the traditional means of gross and histological examination with postmortem genetic analysis of young victims would assist in identifying their cause of death.
authors.affiliation: Department of Legal Medicine, Osaka Medical College, 2-7 Daigaku, Takatsuki, 569-8686, Japan.
authors.forename: Takako
authors.initials: T
authors.lastname: Sato
authors.forename: Hajime
authors.initials: H
authors.lastname: Nishio
authors.forename: Koichi
authors.initials: K
authors.lastname: Suzuki
mesh_terms: D000293:Adolescent; D000328:Adult; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D003645:Death, Sudden / Q000209:etiology*; D051301:Desmoglein 2 / Q000235:genetics*; D051180:Desmoplakins / Q000235:genetics*; D005260:Female; D006352:Heart Ventricles / Q000473:pathology; D006801:Humans; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D009206:Myocardium / Q000473:pathology; D051191:Plakophilins / Q000235:genetics*; D017421:Sequence Analysis; D055815:Young Adult
chemical_list: C495314:DSG2 protein, human; D051301:Desmoglein 2; D051180:Desmoplakins; C495337:PKP2 protein, human; D051191:Plakophilins
keywords: arrhythmogenic right ventricular cardiomyopathy; desmoplakin; forensic pathology; forensic science; molecular autopsy; sudden death