1School of Medicine, University of Zagreb, Zagreb, Croatia; 2Sveti Duh University Hospital, Zagreb, Croatia; 3Merkur University Hospital, Zagreb, Croatia.
Acta Clin Croat. 2021 Dec;60(4):739-748. doi: 10.20471/acc.2021.60.04.22.
Congenital long QT syndrome (LQTS) is a disorder of myocardial repolarization defined by a prolonged QT interval on electrocardiogram (ECG) that can cause ventricular arrhythmias and lead to sudden cardiac death. LQTS was first described in 1957 and since then its genetic etiology has been researched in many studies, but it is still not fully understood. Depending on the type of monogenic mutation, LQTS is currently divided into 17 subtypes, with LQT1, LQT2, and LQT3 being the most common forms. Based on the results of a prospective study, it is suggested that the real prevalence of congenital LQTS is around 1:2000. Clinical manifestations of congenital LQTS include LQTS-attributable syncope, aborted cardiac arrest, and sudden cardiac death. Many patients with congenital LQTS will remain asymptomatic for life. The initial diagnostic evaluation of congenital LQTS includes obtaining detailed personal and multi-generation family history, physical examination, series of 12-lead ECG recordings, and calculation of the LQTS diagnostic score, called Schwartz score. Patients are also advised to undertake 24-hour ambulatory monitoring, treadmill/cycle stress testing, and LQTS genetic testing for definitive confirmation of the diagnosis. Currently available treatment options include lifestyle modifications, medication therapy with emphasis on beta-blockers, device therapy and surgical therapy, with beta-blockers being the first-line treatment option, both in symptomatic and asymptomatic patients.
先天性长 QT 综合征（LQTS）是一种心肌复极障碍性疾病，其特征为心电图（ECG）上 QT 间期延长，可导致室性心律失常和心源性猝死。LQTS 于 1957 年首次被描述，此后其遗传病因已在许多研究中得到研究，但仍未完全了解。根据单基因突变的类型，LQTS 目前分为 17 个亚型，其中 LQT1、LQT2 和 LQT3 最为常见。基于一项前瞻性研究的结果，提示先天性 LQTS 的实际患病率约为 1:2000。先天性 LQTS 的临床表现包括与 LQTS 相关的晕厥、心搏骤停和心源性猝死。许多先天性 LQTS 患者终生无症状。先天性 LQTS 的初始诊断评估包括获取详细的个人和多代家族史、体格检查、12 导联心电图记录系列和 LQTS 诊断评分（称为 Schwartz 评分）的计算。还建议患者进行 24 小时动态监测、跑步机/自行车压力测试和 LQTS 基因检测，以明确诊断。目前可用的治疗选择包括生活方式改变、以β受体阻滞剂为重点的药物治疗、器械治疗和手术治疗，β受体阻滞剂是有症状和无症状患者的一线治疗选择。
