Division of Arrhythmia and Electrophysiology, Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, 5-7-1 Fujishiro-dai, Suita, Osaka, 565-8565 Japan.
Circ Res. 2011 Jun 24;109(1):97-109. doi: 10.1161/CIRCRESAHA.110.224600.
Since 1995, when a potassium channel gene, hERG (human ether-à-go-go-related gene), now referred to as KCNH2, encoding the rapid component of cardiac delayed rectifier potassium channels was identified as being responsible for type 2 congenital long-QT syndrome, a number of potassium channel genes have been shown to cause different types of inherited cardiac arrhythmia syndromes. These include congenital long-QT syndrome, short-QT syndrome, Brugada syndrome, early repolarization syndrome, and familial atrial fibrillation. Genotype-phenotype correlations have been investigated in some inherited arrhythmia syndromes, and as a result, gene-specific risk stratification and gene-specific therapy and management have become available, particularly for patients with congenital long-QT syndrome. In this review article, the molecular structure and function of potassium channels, the clinical phenotype due to potassium channel gene mutations, including genotype-phenotype correlations, and the diverse mechanisms underlying the potassium channel gene-related diseases will be discussed.
自 1995 年以来，一种钾通道基因 hERG（人类 ether-à-go-go 相关基因），现在称为 KCNH2，其编码心脏延迟整流钾通道的快速成分，被认为是导致 2 型先天性长 QT 综合征的原因，许多钾通道基因已被证明可引起不同类型的遗传性心律失常综合征。这些包括先天性长 QT 综合征、短 QT 综合征、Brugada 综合征、早期复极综合征和家族性心房颤动。在一些遗传性心律失常综合征中已经研究了基因型-表型相关性，因此，已经出现了针对特定基因的风险分层以及针对特定基因的治疗和管理，特别是对于先天性长 QT 综合征患者。在这篇综述文章中，将讨论钾通道的分子结构和功能、由于钾通道基因突变引起的临床表型，包括基因型-表型相关性，以及钾通道基因相关疾病的多种机制。
