Shkol'nikova M A, Kharlap M S, Il'darova R A, Bereznitskaia V V, Kalinin L A
Kardiologiia. 2011;51(5):50-61.
Inherited long QT syndrome (LQTS) refers to the primary electrical diseases of the heart. It is characterized by QT prolongation on resting ECG and syncope due to life-threatening ventricular arrhythmias. This review focuses on diagnosis, differential diagnosis, risk stratification of sudden cardiac death, and treatment strategy of patients with most prevalent genetic fOrms of LQTS - LQT1, LQT2 and LQT3, which accounted for about 90% of all genetically confirmed cases. Recent advances in understanding of relationship between clinical, electrocardiographic features (on ECG, body surface mapping, stress test) and genetic variants of LQT presented. Characteristics of syncopal events and ECG features of LQTl, LQT2 and LQT3 in the majority of cases are helpful to make an appropriate choice for therapy, even before positive result of molecular genetic testing. Management has focused on the use of beta blockers as first-line treatment and exclusion of triggers of life-threatening arrhythmia which are specific for each molecular-genetic variant. Implantation of cardioverter defibrillator for secondary prevention of sudden death in the high-risk patients or patients with insufficient effect of antiarrhythmic therapy is required.
遗传性长QT综合征（LQTS）是指心脏的原发性电疾病。其特征是静息心电图上QT间期延长以及因危及生命的室性心律失常导致的晕厥。本综述重点关注LQTS最常见遗传形式——LQT1、LQT2和LQT3患者的诊断、鉴别诊断、心源性猝死风险分层及治疗策略，这三种类型约占所有基因确诊病例的90%。阐述了对LQTS临床、心电图特征（体表心电图、体表电位标测、负荷试验）与基因变异之间关系的最新认识。大多数情况下，晕厥事件的特征以及LQT1、LQT2和LQT3的心电图特征有助于在分子基因检测结果呈阳性之前做出合适的治疗选择。治疗重点是使用β受体阻滞剂作为一线治疗，并排除每种分子遗传变异所特有的危及生命的心律失常触发因素。对于高危患者或抗心律失常治疗效果不佳的患者，需要植入心脏复律除颤器以二级预防猝死。
