Lü Ye-hui, Li Wen-can, Chen Long
Department of Forensic Medicine, Shanghai Medical College, Fudan University, Shanghai 200032, China.
Fa Yi Xue Za Zhi. 2012 Oct;28(5):362-5, 370.
Sudden cardiac death (SCD) refers to sudden stop of breath and heartbeat and death within one hour caused by underlying cardiac diseases. Clinical manifestation of inherited arrhythmia is lethal arrhythmia without gross cardiac lesions, which can lead to SCD. The autopsy and pathological examination are difficult to identify the cause of death. Fatal mechanism of inherited arrhythmia is the change in the genes encoding for cardiac ion channel protein, which causes the dysfunctions of cardiac electrical activity. It is very important to detect genetic mutation by the technique of molecular biology in negative autopsy. This review presents the latest research on the relation between SCD and inherited arrhythmia, and the application of molecular autopsy used in identifying SCD due to inherited arrhythmia and its candidate gene.
心脏性猝死（SCD）是指由潜在心脏疾病引起的呼吸和心跳突然停止并在一小时内死亡。遗传性心律失常的临床表现为无明显心脏病变的致死性心律失常，可导致心脏性猝死。尸检和病理检查难以确定死因。遗传性心律失常的致死机制是编码心脏离子通道蛋白的基因发生改变，导致心脏电活动功能障碍。在尸检结果为阴性时，通过分子生物学技术检测基因突变非常重要。本文综述了心脏性猝死与遗传性心律失常关系的最新研究，以及分子尸检在识别遗传性心律失常所致心脏性猝死及其候选基因方面的应用。
