心脏离子通道病是近10年来被人们逐渐认识的一类原发性心电疾病,其病因是编码心肌细胞上各主要离子通道亚单位的基因突变导致相应通道功能异常。已明确的病种有长QT综合征、B rugada综合征、特发性心室颤动、儿茶酚胺敏感的多形性室性心动过速、短QT综合征、孤立性心房颤动、病窦综合征、心脏传导阻滞等,这些疾病可引起晕厥甚至猝死。本文综述了这类疾病的分子致病机制、诊断标准、临床表现及治疗。 Cardiac ion channel disease is a kind of primary cardiocerebral disease that people have been gradually recognizing for nearly 10 years. The etiology is that gene mutations that encode the major ion channel subunits of cardiomyocytes lead to dysfunction of corresponding channels. Have been identified with long QT syndrome, B rugada syndrome, idiopathic ventricular fibrillation, catecholamine-sensitive pleomorphic ventricular tachycardia, short QT syndrome, isolated atrial fibrillation, sick sinus syndrome, heart Conduction block, etc., these diseases can cause syncope or even sudden death. This article reviews the molecular pathogenesis, diagnostic criteria, clinical presentation and treatment of these diseases.