摘要
先天遗传引起的心肌细胞离子通道疾病可引起恶性心律失常,导致患者的晕厥、心脏骤停甚至猝死,而在对这些疾病进行病理学死因鉴定时,常因无阳性发现而缺少科学依据。随着现代分子生物学技术的发展,陆续发现了多种可导致离子通道疾病发病的突变基因。本文针对导致此类疾病中较常见的长QT综合征、短QT综合征、Brugada综合征以及儿茶酚胺敏感性多形性室性心动过速等类型,综述相关突变基因的研究进展,以期为相关研究和鉴定提供参考。
Inherited ion channel diseases of cardiac muscle cell can result in syncope,cardiac arrest or even sudden death. However,lack of positive findings increases the difficulties of forensic pathological identification. With the development of biological technology,a variety of gene mutations that can lead to the ion channel disease have been found. In this article,we introduced the research progress of related gene mutations that can lead to some common type of ion channel disease,such as long QT syndrome,short QT comprehensive syndrome,Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia speed,in order to provide a reference for the relevant research and identification.
出处
《中国法医学杂志》
CSCD
2016年第1期36-39,共4页
Chinese Journal of Forensic Medicine
关键词
法医病理学
心源性猝死
离子通道疾病
forensic pathology
sudden cardiac death
ion channel disease
