Department of Biomedical Sciences and Public Health, School of Medicine, University "Politecnica delle Marche", Via Tronto 10/A, 60126, Ancona, Italy.
Department of Health Sciences, University "Magna Graecia", 88100, Catanzaro, Italy.
J Biomed Sci. 2017 Aug 15;24(1):56. doi: 10.1186/s12929-017-0364-6.
Sudden cardiac death (SCD) describes a natural and unexpected death from cardiac causes occurring within a short period of time (generally within 1 h of symptom onset) in the absence of any other potentially lethal condition. Most SCD-related diseases have a genetic basis; in particular congenital cardiac channelopathies and cardiomyopathies have been described as leading causes of SCD. Congenital cardiac channelopathies are primary electric disorders caused by mutations affecting genes encoding cardiac ion channels or associated proteins, whereas cardiomyopathies are related to mutations in genes encoding several categories of proteins, including those of sarcomeres, desmosomes, the cytoskeleton, and the nuclear envelope. The purpose of this review is to provide a general overview of the main genetic variants that have been linked to the major congenital cardiac channelopathies and cardiomyopathies. Functional alterations of the related proteins are also described.
心脏性猝死（SCD）是指因心脏原因在短时间内（一般症状出现后 1 小时内）自然发生的意外死亡，不存在任何其他潜在致命情况。大多数与 SCD 相关的疾病都具有遗传基础；特别是先天性心脏通道病和心肌病已被描述为 SCD 的主要原因。先天性心脏通道病是由影响编码心脏离子通道或相关蛋白的基因突变引起的原发性电异常，而心肌病与编码几种蛋白类别的基因突变有关，包括肌节、桥粒、细胞骨架和核膜的蛋白。本文旨在概述与主要先天性心脏通道病和心肌病相关的主要遗传变异，并描述相关蛋白的功能改变。
