心源性猝死的遗传学基础研究进展

摘要

心源性猝死是多种疾病进展的最终结果,是组织结构、功能代谢以及遗传因素的协同促成的结果.虽然流行病学调查认为年龄、既往心肌梗死,低左心射血分数为心源性猝死的危险因素得到较广泛认同,但在大量心源性猝死事件观察中显示出强烈的遗传倾向.以遗传倾向作为风险评估的认识形成显然有助于对心源性猝死的预测及预防.现着重从流行病学、遗传学及"等位基因结构"疾病研究进展方面详细探讨有潜在高心源性猝死风险的心血管疾病的电生理及解剖结构遗传学基础.%As the final outcome of a variety of diseases, sudden cardiac death (SCD) is a result of a synergy in organizational structure, functional metabolic and genetic factors. While epidemiological investigations show that factors such as age, previous myocardial infarctions, and a low left ventricular ejection fraction are widely accepted risk factors for SCD, numerous SCD events have been linked to a genetic tendency. Recognizing the genetic tendency for SCD allows for the creation of a risk assessment for the prediction and prevention of an SCD event. This review focuses on the progress in the research of the epidemiology, "allele structure" genetics and disease, while examining the genetic tendency of cardiovascular diseases with high SCD risk.