短QT综合征诊断与治疗  

Diagnosis and treatment of short QT syndrome

作　　者：洪葵[1] 

机构地区：[1]南昌大学第二附属医院心内科,南昌330006

出　　处：《中国实用内科杂志》2013年第1期17-20,共4页Chinese Journal of Practical Internal Medicine

基　　金：教育部创新团队基金(IRT1141);国家自然科学基金(81070148)

摘　　要：短QT综合征(SQTS)是以QT间期缩短为特征、与心源性猝死(SCD)相关、常伴有家族性心房颤动和(或)心室颤动,而心脏结构正常的离子通道疾病。目前已知7个致病基因,包括KCNH2、KCNQ1、KCNJ2、CACNAIC、CAC-NB2B、CACNA2D1及SCN5A基因,分别编码于钾通道、钙通道和钠通道亚单位。复极离散度增加和不应期的缩短被认为是SQTS心律失常的分子机制。SCD的一级和二级预防均推荐植入心脏复律除颤器。奎尼丁是有效的治疗药物。Short QT syndrome （SQTS） ,an ion channel abnormality-related disease with normal cardiac structures, is clini- cally characterized of a shortened QT interval on electrocardiogram （ECG） and a high incidence of familial atrial fibrillation and （or） ventricular fibrillation that is linked to sudden cardiac death （SCD）. Mutations in the genes encoding potassium ion channel （ KCNH2, KCNQ1 and KCNJ2）, calcium ion channel （ CACNAIC, CACNB2B and CACNA2D1 ） and sodium ion channel （SCN5A） subunits have been identified. Increased variation in repolarization and shortened refractory period have been linked to the pathogenesis of cardiac arrhythmia in SQTS. lntracardiac defibrillator has been suggested to be the first-line therapy for prevention of grade 1 and 2 SCD,for which quinidine is considered as an effective medication.

关 键 词：短QT综合征 SCD 心房颤动 心室颤动 离子通道 QT间期 

分 类 号：R541.7[医药卫生—心血管疾病]