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离子通道疾病:2016年更新

Ion Channel Diseases: an Update for 2016.

作者信息

Tomaselli Gordon F, Barth Andreas S

机构信息

Division of Cardiology, Johns Hopkins University, 720 N. Rutland Ave. Ross 844, Baltimore, MD, 21205, USA.

Department of Medicine, Johns Hopkins University, 720 N. Rutland Ave. Ross 844, Baltimore, MD, 21205, USA.

出版信息

Curr Treat Options Cardiovasc Med. 2016 Mar;18(3):21. doi: 10.1007/s11936-016-0442-1.

Abstract

Ion channelopathies are a frequent cause of sudden cardiac death (SCD) in patients with structurally normal hearts. These are generally Mendelian inherited electrical disorders with variable penetrance and expressivity. The ability to predict the development of life threatening arrhythmias in these patients is challenging. This chapter will present an update on the genetics, the role of genetic testing, and management of the inherited cardiac channelopathies with a focus on the relatively more common syndromes associated with an increased risk of SCD.

摘要

离子通道病是心脏结构正常的患者发生心源性猝死(SCD)的常见原因。这些疾病通常是孟德尔遗传的电紊乱,具有可变的外显率和表现度。预测这些患者发生危及生命的心律失常的能力具有挑战性。本章将介绍遗传性心脏离子通道病的遗传学、基因检测的作用及管理方面的最新情况,重点关注与SCD风险增加相关的相对更常见的综合征。

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