Molecular genetics of long QT syndrome from genes to patients

Abstract

Recently, there has been intense excitement in the field of cardiac arrhythmias. Molecular genetic studies have led to significant progress in characterizing molecular mechanisms underlying long QT syndrome, an inherited cardiac disorder that causes syncope, seizures, and sudden death from ventricular arrhythmias. Three long QT syndrome genes have been identified: SCNSA on 3p21–24, HERG on 7q35–36, and KVLQT1 on 11p15.5; all encode cardiac mycote ion channels. Molecular and electrophysiological characterization of these three long QT syndrome genes has led to identification of three critical electrical currents in the human heart (INa, lKr, lKs) and provides insight into our fundamental understanding of cardiac function. Genetic testing and gene-specific therapies are now available for some families with long QT syndrome.