Genetics of Sudden Cardiac Death
Genetics of Sudden Cardiac Death
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DOI：
10.1161/circresaha.116.304030
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发表时间：
2015-06-05
影响因子：
20.1
通讯作者：
Priori, Silvia G.
中科院分区：
文献类型：
--
作者：
Bezzina, Connie R.;Lahrouchi, Najim;Priori, Silvia G.
心源性猝死发生在多种心脏病中，是普通人群死亡的重要原因。过去 20 年进行的遗传学研究显着阐明了与心源性猝死相关的遗传性心脏病的遗传基础。在这里，我们回顾了心源性猝死的遗传基础，重点关注主要由编码离子通道的基因突变引起的原发性电障碍和心肌病的遗传学知识，这些疾病归因于编码更广泛类别的蛋白质的基因突变，包括肌节、细胞骨架和桥粒的蛋白质。我们讨论了目前在解开冠状动脉疾病后遗症情况下导致心源性猝死的遗传因素方面面临的挑战，并介绍了近年来针对心电图参数进行的全基因组关联研究，强调了它们在揭示心电功能新生物学见解方面的潜力。
Sudden cardiac death occurs in a broad spectrum of cardiac pathologies and is an important cause of mortality in the general population. Genetic studies conducted during the past 20 years have markedly illuminated the genetic basis of the inherited cardiac disorders associated with sudden cardiac death. Here, we review the genetic basis of sudden cardiac death with a focus on the current knowledge on the genetics of the primary electric disorders caused primarily by mutations in genes encoding ion channels, and the cardiomyopathies, which have been attributed to mutations in genes encoding a broader category of proteins, including those of the sarcomere, the cytoskeleton, and desmosomes. We discuss the challenges currently faced in unraveling genetic factors that predispose to sudden cardiac death in the setting of sequela of coronary artery disease and present the genome-wide association studies conducted in recent years on electrocardiographic parameters, highlighting their potential in uncovering new biological insights into cardiac electric function.