[Postmortem genetic testing in sudden cardiac death due to ion channelopathies].
Sudden cardiac death accounts for majority of deaths in human. Evident cardiac lesions that may explain the cause of death can be detected in comprehensive postmortem investigation in most sudden cardiac death. However, no cardiac morphological abnormality is found in a considerable number of cases although the death is highly suspected from cardiac anomaly. With the advances in the modern molecular biology techniques, it has been discovered that many of these sudden deaths are caused by congenital ion channelopathies in myocardial cell, i.e., Brugada syndrome, long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and short QT syndrome, etc. This article presents the molecular genetics, electrocardiographic abnormalities, clinical manifestations, and mechanisms leading to sudden cardiac death with emphasis on the role of postmortem genetic testing in certification of cause of death. It may provide helpful information in investigating sudden cardiac death due to ion channelopathies in medico-legal practice.
Guan
Da-wei
DW
Department of Forensic Pathology, School of Forensic Medicine, China Medical University, Shenyang 110001, China. dwguan@mail.cmu.cdu.cn
Zhao
Rui
R
D001145:Arrhythmias, Cardiac / Q000235:genetics; D001344:Autopsy / Q000379:methods; D053840:Brugada Syndrome / Q000150:complications / Q000235:genetics*; D002423:Cause of Death; D053447:Channelopathies / Q000150:complications / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000453:epidemiology / Q000209:etiology* / Q000473:pathology; D004562:Electrocardiography; D049429:Forensic Pathology; D005820:Genetic Testing; D006329:Heart Conduction System / Q000503:physiopathology; D006801:Humans; D007473:Ion Channels / Q000235:genetics; D008133:Long QT Syndrome / Q000150:complications / Q000235:genetics*; D009154:Mutation; D017180:Tachycardia, Ventricular / Q000150:complications / Q000235:genetics
D007473:Ion Channels