Cardiac channelopathies: Genetic and molecular mechanisms

被引：88

作者：

Abriel, Hugues ^{[1
]}

Zaklyazminskaya, Elena V. ^{[2
]}

机构：

[1] Univ Bern, Dept Clin Res, CH-3010 Bern, Switzerland

[2] Russian Res Ctr Surg RAMS, Moscow, Russia

来源：

GENE | 2013年 / 517卷 / 01期

基金：

瑞士国家科学基金会;

关键词：

Cardiac ion channels; Action potential; Genetics; Sodium channels; Potassium channels; LONG-QT SYNDROME; POLYMORPHIC VENTRICULAR-TACHYCARDIA; ST-SEGMENT ELEVATION; GUIDELINES WRITING COMMITTEE; SODIUM-CHANNEL MUTATIONS; ASSOCIATION TASK-FORCE; OF-FUNCTION MUTATIONS; BUNDLE-BRANCH BLOCK; T-WAVE PATTERNS; BRUGADA-SYNDROME;

D O I：

10.1016/j.gene.2012.12.061

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Channelopathies are diseases caused by dysfunctional ion channels, due to either genetic or acquired pathological factors. Inherited cardiac arrhythmic syndromes are among the most studied human disorders involving ion channels. Since seminal observations made in 1995, thousands of mutations have been found in many of the different genes that code for cardiac ion channel subunits and proteins that regulate the cardiac ion channels. The main phenotypes observed in patients carrying these mutations are congenital long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), short QT syndrome (SQTS) and variable types of conduction defects (CD). The goal of this review is to present an update of the main genetic and molecular mechanisms, as well as the associated phenotypes of cardiac channelopathies as of 2012. (c) 2012 Elsevier B.V. All rights reserved.

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页数：11

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