Congenital long QT syndrome

Abstract

Once considered an extremely rare yet lethal arrhythmogenic peculiarity, congenital long QT syndrome (LQTS) is understood today as a primary cardiac arrhythmia syndrome (cardiac channelopathy) that is both far more common and, overall, much less lethal than previously recognized. Clinically, LQTS is often characterized by prolongation of the heart rate corrected QT interval (QTc) on a 12-lead surface electrocardiogram (ECG) and is associated with syncope, seizures, and sudden cardiac death due to ventricular arrhythmias (Torsade des pointes, TdP) usually following a precipitating event such as exertion, extreme emotion, or auditory stimulation. The molecular breakthroughs of the 1990s, led in large measure by the research laboratories of Drs. Mark Keating and Jeffrey Towbin in conjunction with LQTS registries containing meticulously phenotyped patients directed by Drs. Arthur Moss and Peter Schwartz, revealed the fundamental molecular underpinnings of LQTS- namely, defective cardiac channels.1 © 2008 Springer-Verlag London Limited.