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Identification of Arrhythmogenic Right Ventricular Cardiomyopathy‐Causing Gene Mutations in Young Sudden Unexpected Death Autopsy Cases
Author(s) -
Sato Takako,
Nishio Hajime,
Suzuki Koichi
Publication year - 2015
Publication title -
journal of forensic sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.715
H-Index - 96
eISSN - 1556-4029
pISSN - 0022-1198
DOI - 10.1111/1556-4029.12657
Subject(s) - desmoplakin , sudden death , medicine , autopsy , cardiology , mutation , sudden cardiac death , gene mutation , cause of death , genetic testing , forensic pathology , desmosome , pathology , genetics , gene , biology , disease , cell
Arrhythmogenic right ventricular cardiomyopathy ( ARVC ) results in an increased risk of sudden death. We sought mutations of desmoglein‐2 ( DSG 2 ), desmoplakin ( DSP ), and plakophilin‐2 ( PKP 2 ) 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.