Mazzanti Andrea, Underwood Katherine, Nevelev Dmitriy, Kofman Shanna, Priori Silvia G
Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy.
Department of Molecular Medicine, University of Pavia, Pavia, Italy.
J Cardiovasc Electrophysiol. 2017 Oct;28(10):1226-1236. doi: 10.1111/jce.13265. Epub 2017 Jun 27.
Short QT syndrome (SQTS) is one of the rarest inheritable cardiac channelopathies, characterized by an accelerated cardiac repolarization, which is also the substrate for the development of life-threatening ventricular arrhythmias. Up to this date, fewer than 200 SQTS cases have been reported in the literature worldwide. Patients with SQTS may experience a cardiac arrest as early as in the neonatal period or as late as 80 years old. The cumulative probability of experiencing a cardiac arrest by the fifth decade of life approaches 40%, highlighting the importance of early recognition and management. SQTS is an autosomal dominant disease with five identified causative genes, including three that encode for potassium channels (KCNH2, KCNQ1, and KCNJ2) and two that encode for subunits of the L-type calcium channels (CACNA1C and CACNB2). The term "early repolarization" (ER) has long been used to refer to a heterogeneous group of specific QRS-T junction patterns that are commonly found on the electrocardiograms of young healthy subjects. In the last decade, it has been suggested that in some individuals, the presence of ER may be associated with an increased risk of sudden cardiac death, and thus the term "early repolarization syndrome" (ERS) has progressively entered into use. Up to this point, however, whether ER constitutes a true primary arrhythmic disorder or whether it is simply a predisposing substrate that facilitates arrhythmias in the presence of other triggers remains an unresolved issue. In this review paper, we aim to integrate the current literature on SQTS and ERS. For each, we will describe the key steps that first led to the identification of the syndrome before moving into a discussion of our current understanding of each entity, including the epidemiology, genetics, diagnosis, clinical manifestations, and management.
短QT综合征（SQTS）是最罕见的遗传性心脏离子通道病之一，其特征为心脏复极加速，这也是发生危及生命的室性心律失常的基础。截至目前，全球文献报道的SQTS病例少于200例。SQTS患者最早可在新生儿期发生心脏骤停，最晚可在80岁时发病。到生命的第五个十年，发生心脏骤停的累积概率接近40%，这凸显了早期识别和管理的重要性。SQTS是一种常染色体显性疾病，已确定有五个致病基因，其中三个编码钾通道（KCNH2、KCNQ1和KCNJ2），两个编码L型钙通道亚基（CACNA1C和CACNB2）。“早期复极”（ER）一词长期以来一直用于指代在年轻健康受试者心电图上常见的一组特定QRS-T波交界处的异质性模式。在过去十年中，有人提出，在某些个体中，ER的存在可能与心脏性猝死风险增加有关，因此“早期复极综合征”（ERS）一词逐渐开始使用。然而，到目前为止，ER是构成一种真正的原发性心律失常疾病，还是仅仅是在存在其他触发因素时促进心律失常的易感基础，仍然是一个未解决的问题。在这篇综述文章中，我们旨在整合关于SQTS和ERS的当前文献。对于每一种疾病，我们将描述最初导致该综合征被识别的关键步骤，然后讨论我们目前对每个实体的理解，包括流行病学、遗传学、诊断、临床表现和管理。
