Clinical Advances in Congenital Long QT Syndrome

Abstract

Long QT syndrome is an inherited arrhythmia characterized by a prolonged QT interval and increased risk of life-threatening cardiac events, including arrhythmogenic syncope, seizures, and sudden cardiac death with a structurally normal heart. Since its first description in the 1950s, extensive researches allowed a better understanding of the cause and mechanisms of this disease, which improved our ability of early diagnosis, risk stratification, and precise therapy of these patients. This article provides an updated review of the clinical and molecular profiles of this potentially lethal inherited disorder and summarizes current knowledge regarding diagnosis, risk stratification, and therapy.

Understanding Calmodulin Variants Affecting Calcium-Dependent Inactivation of L-Type Calcium Channels through Whole-Cell Simulation of the Cardiac Ventricular Myocyte

“…The disease is complex with a large number of different disease variants attributed to mutations in different proteins and is illustrated by the naming conventions for two of these diseases, Long QT Syndrome 14 (LQT14) and catecholaminergic polymorphic ventricular tachycardia Type 4 (CPVT4). Characterized by an elongation of the QT interval on the electrocardiogram, the thirteen LQT14 variants arise out of functional abnormalities in different proteins responsible for restoring the transmembrane voltage after depolarization [20][21][22]. The CPVT4 phenotype is more difficult to diagnose, as fatal arrhythmia is present only under cardiac stress [23].…”