编码心脏钠通道α-亚基的SCN5A基因的异常,常导致各种疾病表型,包括长QT综合征、Brugada综合征、心脏传导障碍、心房静止、心房颤动、窦房结病等心律失常疾病,甚至扩张型心肌病等器质性心脏病。近来还发现与心脏钠通道相互作用分子的异常也能导致相关表型。现对SCN5A相关Na+通道病进展进行综述。 Abnormalities in the SCN5A gene encoding the alpha-subunit of the cardiac sodium channel often lead to various disease phenotypes including arrhythmic disorders such as long QT syndrome, Brugada syndrome, cardiac conduction disorders, atrial ataxia, atrial fibrillation, sinoatrial node disease , And even dilated cardiomyopathy and other organic heart disease. It has also recently been found that abnormalities in the molecules that interact with the cardiac sodium channel can also lead to related phenotypes. The progression of SCN5A-related Na + channel disease is reviewed.