Phenotypic Manifestations of Mutations in Genes Encoding Subunits of Cardiac Potassium Channels

作者：Shimizu Wataru^*; Horie Minoru

来源：Circulation Research, 2011, 109(1): 97-109.

DOI：10.1161/CIRCRESAHA.110.224600

• genetic testing
• ion channels
• sudden death
• ventricular fibrillation
• atrial fibrillation

Since 1995, when a potassium channel gene, hERG (human either-a-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 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 structure and function of potassium channels, the clinical phenotype due to potassium channel gene mutations, including genotype-phenotype correlations and the diverse mechanisms unverlying the potassium channel gene-related diseases will be discussed. (Circ Res. 2011;109:97-109.)

• 出版日期2011-6-24