St George's University of London, Division of Cardiovascular Sciences, Cranmer Terrace, London SW17 0RE, UK.
Heart. 2011 Sep;97(17):1365-72. doi: 10.1136/hrt.2011.223883. Epub 2011 Jun 16.
The underlying aetiology of sudden arrhythmic death syndrome is predominantly inherited cardiac disease, and 'channelopathies' (cardiac ion channel disease) are the most common detectable cause of death. This heterogeneous group includes Brugada syndrome, long QT syndrome and catecholaminergic polymorphic ventricular tachycardia. Common features include variable penetrance, sudden death due to ventricular arrhythmias, and the absence of structural heart disease. The understanding of cardiac ion channel disease has been revolutionised by genetics. At present, genotype contributes to risk stratification in Brugada syndrome, long QT syndrome and catecholaminergic polymorphic ventricular tachycardia, and the future promises management tailored to the genetic diagnosis.
心律失常性猝死综合征的根本病因主要是遗传性心脏病，而“离子通道病”（心脏离子通道病）是最常见的可检测死因。该疾病具有异质性，包括 Brugada 综合征、长 QT 综合征和儿茶酚胺多形性室性心动过速。其共同特征包括可变外显率、由室性心律失常导致的猝死，以及不存在结构性心脏病。遗传学彻底改变了对心脏离子通道病的认识。目前，基因型有助于 Brugada 综合征、长 QT 综合征和儿茶酚胺多形性室性心动过速的风险分层，未来有望根据基因诊断进行个体化治疗。
