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著者: Wataru Shimizu, Minoru Horie
雑誌名: Circ Res. 2011 Jun 24;109(1):97-109. doi: 10.1161/CIRCRESAHA.110.224600.
Abstract/Text
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.
PMID 21700951 Circ Res. 2011 Jun 24;109(1):97-109. doi: 10.1161/CIRCRESAHA.110.224600.
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