El-Sherif Nabil, Turitto Gioia, Boutjdir Mohamed
Downstate Medical Center, State University of New York, Brooklyn, NY, USA.
VA NY Harbor Healthcare System, Brooklyn, NY, USA.
Ann Noninvasive Electrocardiol. 2017 Nov;22(6). doi: 10.1111/anec.12481. Epub 2017 Jul 2.
Since its initial description by Jervell and Lange-Nielsen in 1957, the congenital long QT syndrome (LQTS) has been the most investigated cardiac ion channelopathy. A prolonged QT interval in the surface electrocardiogram is the sine qua non of the LQTS and is a surrogate measure of the ventricular action potential duration (APD). Congenital as well as acquired alterations in certain cardiac ion channels can affect their currents in such a way as to increase the APD and hence the QT interval. The inhomogeneous lengthening of the APD across the ventricular wall results in dispersion of APD. This together with the tendency of prolonged APD to be associated with oscillations at the plateau level, termed early afterdepolarizations (EADs), provides the substrate of ventricular tachyarrhythmia associated with LQTS, usually referred to as torsade de pointes (TdP) VT. This review will discuss the genetic, molecular, and phenotype characteristics of congenital LQTS as well as current management strategies and future directions in the field.
自1957年耶尔韦尔（Jervell）和朗格 - 尼尔森（Lange-Nielsen）首次描述先天性长QT综合征（LQTS）以来，它一直是研究最多的心脏离子通道病。体表心电图QT间期延长是LQTS的必要条件，也是心室动作电位时程（APD）的替代指标。某些心脏离子通道的先天性以及后天性改变可影响其电流，从而增加APD，进而延长QT间期。整个心室壁APD的不均匀延长导致APD离散。这与延长的APD易于在平台期出现振荡（即早期后除极，EADs）的倾向一起，为与LQTS相关的室性快速性心律失常提供了基础，通常称为尖端扭转型室速（TdP）。本综述将讨论先天性LQTS的遗传、分子和表型特征，以及该领域目前的管理策略和未来方向。
