Long QT syndrome (LQTS) in personal medicine era

Long QT syndrome (LQTS) is an arrhythmogenic ion channel disorder characterized by severely abnormal ventricular repolarization, which results in QT internal prolongation. The condition is associated with sudden cardiac death due to malignant ventricular arrhythmias in form of torsade de pointes. Hundreds of mutations in, to date, 10 genes have been associated with the syndrome. Genetic investigations carried out up until the present have shown that, although the severe form of the disease is sporadic there are a number of common polymorphisms in gene associated with the condition that may confer susceptibility to the development of torsade de pointes in some individuals. Understanding of the molecular processes underlying the syndrome has enabled treatment to be optimized and has led to better survival among sufferers thereby demonstrating a key correspondence between genotype, phenotype, and therapy.LQTS the first disease for which a gene-specific management has become possible and it is opening previously unforeseen preventive and therapeutic strategies. Molecular genetic studies developed over thelast 11 years have yielded important genotype-phenotype correlations, which have helped to guide the treatment approach.This review will outline the current knowledge about the genetics of LQTS and provide essential clinical data, while its primary focus will be on our approach to the clinical management of these patients.