Chapter 5 - Diagnosis, Treatment, and Mechanisms of Long QT Syndrome

Abstract

Molecular genetic studies have linked gene mutations to several inherited cardiovascular diseases, the prototypic example being ion channelopathies causing delayed cardiac repolarization. Congenital long QT syndrome (LQTS) is an inherited arrhythmia syndrome characterized by prolonged QT interval, and an increased risk of polymorphic ventricular tachycardia and sudden cardiac death. The identification and in-depth scientific study of gene mutations associated with this syndrome have enabled novel insights into the mechanisms of the cardiac action potential and cardiac arrhythmias. In this review, we summarize the most recent advances in the diagnosis and treatment of LQTS as well as the mechanisms responsible for this disorder.