The Molecular Basis of the Long QT Syndrome

Abstract

A review describes the mol. basis of long QT syndrome, the cellular consequences of mutations in cardiac ion channel genes, the influence of mutations, and the development of genotype-specific therapy. Topics discussed include cardiac action potentials and the QT interval; mol. genetic approaches to the identification of LQTS genes; mol. mechanisms of LQTS mutations; disease causing mutations in KvLQT1-like channels; mutations in minK as the gene encoding the b-subunit of IKs channels; recessive mutations in KvLQT1 of minK cause LQTS and congenital sensorineural hearing loss; mutations in HERG as the gene encoding the a-subunit of IKr channels; mutations in SCN5A as the gene encoding the a-subunit of cardiac Na+ channels; cellular mechanisms of torsade de pointes arrhythmia; genotype prediction of clin. phenotype; and genotype-specific therapy. [on SciFinder (R)]