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遗传性心律失常的基因检测与咨询的最新进展

Recent advances in genetic testing and counseling for inherited arrhythmias.

作者信息

Mizusawa Yuka

机构信息

Department of Clinical and Experimental Cardiology, Academic Medical Center, University of Amsterdam, Room K2-115, Meibergdreef 9, 1105AZ Amsterdam, The Netherlands.

出版信息

J Arrhythm. 2016 Oct;32(5):389-397. doi: 10.1016/j.joa.2015.12.009. Epub 2016 Feb 5.

Abstract

Inherited arrhythmias, such as cardiomyopathies and cardiac ion channelopathies, along with coronary heart disease (CHD) are three most common disorders that predispose adults to sudden cardiac death. In the last three decades, causal genes in inherited arrhythmias have been successfully identified. At the same time, it has become evident that the genetic architectures are more complex than previously known. Recent advancements in DNA sequencing technology (next generation sequencing) have enabled us to study such complex genetic traits. This article discusses indications for genetic testing of patients with inherited arrhythmias. Further, it describes the benefits and challenges that we face in the era of next generation sequencing. Finally, it briefly discusses genetic counseling, in which a multidisciplinary approach is required due to the increased complexity of the genetic information related to inherited arrhythmias.

摘要

遗传性心律失常,如心肌病和心脏离子通道病,以及冠心病(CHD)是导致成年人心脏性猝死的三种最常见疾病。在过去三十年中,遗传性心律失常的致病基因已被成功鉴定。与此同时,遗传结构比以前所知的更为复杂这一点已变得很明显。DNA测序技术(下一代测序)的最新进展使我们能够研究这种复杂的遗传特征。本文讨论了遗传性心律失常患者基因检测的适应证。此外,它描述了我们在下一代测序时代面临的益处和挑战。最后,它简要讨论了遗传咨询,由于与遗传性心律失常相关的遗传信息日益复杂,因此需要采用多学科方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2eb5/5063262/5210ba884da3/gr1.jpg

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