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Recent advances in genetic testing and counseling for inherited arrhythmias

机译:遗传性心律失常的基因检测和咨询的最新进展

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摘要

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. (C) 2016 Japanese Heart Rhythm Society. Published by Elsevier B.V
机译:遗传性心律失常,例如心肌病和心脏离子通道病,以及冠心病(CHD),是成年人最常导致心脏猝死的三种最常见疾病。在最近的三十年中,遗传性心律不齐的致病基因已被成功鉴定。同时,很明显,遗传结构比以前已知的更为复杂。 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。本文讨论遗传性心律不齐患者的基因检测适应症。此外,它描述了下一代测序时代我们所面临的好处和挑战。最后,它简要讨论了遗传咨询,由于与遗传性心律不齐相关的遗传信息越来越复杂,因此需要采用多学科方法。 (C)2016年日本心律协会。由Elsevier B.V发布

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    Mizusawa, Yuka;

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  • 年度 2016
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  • 原文格式 PDF
  • 正文语种 en
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