University of Pavia and IRCCS Fondazione Policlinico San Matteo, Pavia, Italy.
Curr Opin Cardiol. 2011 Jan;26(1):46-50. doi: 10.1097/HCO.0b013e32834138dd.
Sudden cardiac death (SCD) is a major public health burden, and evidence from family history and from molecular studies on inherited arrhythmogenic syndromes indicates that genetic factors are important contributors to the risk of SCD. This review discusses recent advances on the genetic predisposition to SCD, with a specific focus on primary ventricular fibrillation and channelopathies.
Coronary artery disease is the major determinant of SCD, and its predisposing genetic background is complex. Very recently, a first genome-wide association study on primary ventricular fibrillation was published but the results are not conclusive and further studies with greater numbers are needed. Among channelopathies, long QT syndrome and Brugada syndrome are those in which more significant advances have been reported in the last year. Of note is the recently described early repolarization syndrome and the proposed classification of J wave syndromes. Revision of current guidelines for autopsy investigation has introduced molecular autopsy as a standard requirement for adequate assessment of SCD.
Interesting data on the genetic basis of sudden cardiac death have been published in the past year, and, whereas in the field of channelopathies research findings have been partially recognized by current guidelines and translated into clinical practice, in the field of coronary artery disease further advances are still needed.
心脏性猝死（SCD）是一个重大的公共卫生负担，家族史和遗传性心律失常综合征的分子研究证据表明，遗传因素是 SCD 风险的重要因素。本综述讨论了 SCD 的遗传易感性的最新进展，特别关注原发性心室颤动和通道病。
冠状动脉疾病是 SCD 的主要决定因素，其遗传背景复杂。最近，首次对原发性心室颤动进行了全基因组关联研究，但结果尚无定论，需要进行更多的大型研究。在通道病中，长 QT 综合征和 Brugada 综合征是过去一年中报道有更显著进展的疾病。值得注意的是，最近描述的早期复极综合征和 J 波综合征的分类。对尸检调查现行指南的修订引入了分子尸检作为充分评估 SCD 的标准要求。
过去一年发表了关于心脏性猝死遗传基础的有趣数据，虽然在通道病领域的研究结果已部分被现行指南认可并转化为临床实践，但在冠状动脉疾病领域仍需进一步进展。
