Brenyo Andrew J, Huang David T, Aktas Mehmet K
Department of Cardiovascular Diseases, University of Rochester Medical Center, Strong Memorial Hospital, Rochester, NY 14642, USA.
Cardiology. 2012;122(4):237-47. doi: 10.1159/000339537. Epub 2012 Aug 14.
Congenital long and short QT syndromes are familial arrhythmias characterized by derangement of repolarization and a high risk of sudden cardiac death due to ventricular tachyarrhythmias. With growing understanding of these syndromes in both the medical and lay communities, diagnostic and therapeutic difficulties are increasingly faced by health care providers. Modern genomics has determined the mechanism of arrhythmia induction in these patients, resulting in specific medical therapies and improved risk stratification. This paper reviews the common presentations, genetic etiology, basic evaluation, risk stratification, and therapeutic approach for both syndromes. Particular attention is paid to the effect of the individual syndrome on the cardiac action potential and its correlate the surface 12 lead ECG. In conclusion, patients with long and short QT syndromes are at risk for sudden death, with accurate diagnosis, risk stratification, and resulting appropriate therapy favorably altering their outcome.
先天性长QT综合征和短QT综合征是家族性心律失常，其特征是复极化紊乱，且因室性快速心律失常而有较高的心源性猝死风险。随着医学界和普通大众对这些综合征的认识不断加深，医疗服务提供者面临的诊断和治疗困难日益增加。现代基因组学已确定了这些患者心律失常的诱发机制，从而产生了特定的药物治疗方法并改善了风险分层。本文综述了这两种综合征的常见表现、遗传病因、基本评估、风险分层和治疗方法。特别关注了个体综合征对心脏动作电位的影响及其与体表12导联心电图的相关性。总之，长QT综合征和短QT综合征患者有猝死风险，准确的诊断、风险分层以及由此产生的适当治疗可有利地改变其预后。
