期刊
FORENSIC SCIENCE INTERNATIONAL
卷 219, 期 1-3, 页码 33-38出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.forsciint.2011.11.020
关键词
Forensic pathology; Sudden cardiac death; Genetic examination; Hypertrophic cardiomyopathy; Dilated cardiomyopathy; Arrhythmogenic right ventricle cardiomyopathy
资金
- Jorgen Mollers Foundation
- Augustinus Foundation
- Grosserer A.V. Lykfeldt and Wife Foundation
- Helga and Peter Kornings Foundation
- Grosserer Valdemar Foersom and Thyra Foersom Foundation
- Aarhus University
The aim of this investigation was to identify and characterise pathogenic mutations in a sudden cardiac death (SCD) cohort suspected of cardiomyopathy in persons aged 0-40 years. The study material for the genetic screening of cardiomyopathies consisted of 41 cases and was selected from the case database at the Institute of Forensic Medicine. Mutational screening by DNA sequencing was performed to detect mutations in DNA samples from deceased persons suspected of suffering from hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and arrhythmogenic right ventricle cardiomyopathy (ARVC). A total of 9 of the examined 41 cases had a rare sequence variant in the MYBPC3, MYH7, LMNA, PKP2 or TMEM43 genes, of which 4 cases (9.8%) were presumed to be pathogenic mutations. The presumed pathogenic mutations were distributed with one case of suspected HCM and DCM (MYH7; p.R442H), one case of suspected DCM (LMNA; p.R471H), and two cases of suspected ARVC (PKP2; p.R79X and LMNA; p.R644C). The presented data adds important information on the genetic elements of SCD in the young, and calls for expert pathological evaluation and molecular autopsy in the post-mortem examination of SCD victims with structural anomalies of the heart. (C) 2011 Elsevier Ireland Ltd. All rights reserved.
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