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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。
Innate genetic cardiomyocyte ion channel disease can cause malignant arrhythmia, leading to syncope, cardiac arrest and even sudden death in patients, and in the identification of these pathological causes of death, often without a positive finding due to lack of scientific basis. With the development of modern molecular biology technology, one after another found that a variety of mutations can lead to the development of ion channel disease genes. In this paper, we review the research progress of the related mutated genes for the more common types of long QT syndrome, short QT syndrome, Brugada syndrome and catecholamine-sensitive pleomorphic ventricular tachycardia in these diseases. And identification provide a reference.