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短QT综合征(SQTS)是一种主要发生在年青人及新生儿的临床综合征。它以心电图上经心率较正的QT间期(QTC)小于340ms为特征。临床表现主要有眩晕、心房颤动、心悸及晕厥的反复发作,甚至出现心脏性猝死,但也可无任何症状。分子遗传学基础研究证明SQTS是一种多基因遗传性疾病。目前已有3种与之相关的基因变异被确定:KCNH2(HERG)、KCNQ1及KCNJ2。埋藏式心脏转复除颤器(ICD)是迄今为止被证明唯一能有效预防SQTS猝死的治疗方法。另外,奎尼丁,丙砒胺可作为ICD的一种辅助治疗或可选择的治疗方法,在儿童及新生儿等ICD应用较困难的人群尤为重要。
Short QT Syndrome (SQTS) is a clinical syndrome that occurs mainly in young people and newborns. It is characterized by a QT interval (QTC) of less than 340 ms on the cardiogram. Clinical manifestations are mainly dizziness, atrial fibrillation, palpitations and recurrent syncope, and even sudden cardiac death, but may also have no symptoms. Basic research in molecular genetics has proved that SQTS is a polygenic hereditary disease. At present, three kinds of related gene mutations have been identified: KCNH2 (HERG), KCNQ1 and KCNJ2. Buried Cardiac Defibrillator (ICD) is by far the only proven treatment that can effectively prevent sudden death from SQTS. In addition, quinidine and promethazine can be used as an adjuvant treatment or an alternative treatment for ICD. It is particularly important for ICD patients such as children and newborns to use more difficult patients.