New insights into the long-QT syndrome

The long QT syndrome (LQTS) is an arrhythmogenic disease in which the prolongation of cardiac repolarization alters the heart's electrical stability and predisposes affected individuals to cardiac arrest. The first arrhythmic events occur during adolescence, and are largely triggered by increased sympathetic activity. Mutations in genes encoding ion channels or proteins that control these channels have emerged as the basis of LQTS. The molecular investigation of LQTS flourished from the mid-nineties. At present, 70% of the population can be genotyped LQTS. Researchers are looking for other causative genes, and have even ventured into non-coding regions of LQTS genes in an attempt to genotype the remaining 30% of patients with LQTS. It has also developed strategies to integrate genotyping in clinical practice. In the clinical setting, the tremendous effort invested in major international registrations of LQTS is already bearing fruit. These studies provide new data on the natural history of LQTS and the response to treatment of patients with genotyped LQTS. This editorial and the accompanying review article published in this edition of Spanish Journal of Cardiology highlights recent advances relevant to the clinical management of affected patients.