遗传性心脏病死后基因检测技术的研究进展及法医学应用

Research Progress and Forensic Application of Postmortem Genetic Testing in Hereditary Cardiac Diseases

在青壮年人群中,遗传性心脏病导致的死亡在心脏性猝死(sudden cardiac death,SCD)中占重要比例。遗传性心脏病可分为遗传性结构性心脏病和离子通道病。遗传性结构性心脏病主要为遗传性心肌病,可导致心律失常、心力衰竭和SCD。离子通道病引起的SCD案件尸体检验及组织病理学检验缺乏特征性的形态学表现,检验过程中如何确定死因成为法医学鉴定亟待解决的问题之一。本文通过梳理近年来国内外有关离子通道病和遗传性心肌病的研究成果,系统综述了离子通道病和遗传性心肌病的发病机制和分子遗传学相关研究,并探讨死后基因检测技术在法医学检案中的应用,以期为SCD的法医病理学研究及鉴定提供参考。

Hereditary cardiac disease accounts for a large proportion of sudden cardiac death(SCD)in young adults. Hereditary cardiac disease can be divided into hereditary structural heart disease and channelopathies. Hereditary structural heart disease mainly includes hereditary cardiomyopathy, which results in arhythmia, heart failure and SCD. The autopsy and histopathological examinations of SCD caused by channelopathies lack characteristic morphological manifestations. Therefore, how to determine the cause of death in the process of examination has become one of the urgent problems to be solved in forensic identification. Based on the review of recent domestic and foreign research results on channelopathies and hereditary cardiomyopathy, this paper systematically reviews the pathogenesis and molecular genetics of channelopathies and hereditary cardiomyopathy, and discusses the application of postmortem genetic testing in forensic identification, to provide reference for forensic pathology research and identification of SCD.