遗传性长QT综合征的研究进展

Review of Current Research of Inherited Long-QT Syndrome

遗传性长QT综合征是第一个被发现的离子通道病,其心电图特征性表现为QT间期延长,T波异常,易诱发尖端扭转型室性心动过速和心室颤动,临床表现为反复的晕厥及心脏猝死。实验研究指出各种编码钾通道、钠通道、钙通道亚基蛋白或调控蛋白的基因突变导致心脏复极异常。遗传性长QT综合征按突变基因类型共分为13型,且特异的基因型与患者临床表型之间也存在着显著的关联性。目前对长QT综合征的治疗方法包括:β受体阻滞剂、心脏起搏、埋藏式心脏复律除颤器、左颈胸交感神经切除术及其他治疗策略,这些治疗方法在遗传性长QT综合征的一级及二级预防中起着重要的作用。

Hereditary long-QT syndrome is the first ionic channeIopathy with increased propensity to syncope, torsades de pointes, ventricular fibrillation and sudden arrhythmic death. This inherited cardiac disease is characterized by a prolongation of the QT interval and abnormality of the T wave at basal ECG. Some researches showed mutations in the genes, encoded cardiac ion channel （ K^＋ , Na ^＋ and Ca^2＋ ） subunits or proteins involved in modulating ionic currents, could cause repolarization abnormality. LQTS with more than 1 700 mutations are classified to 13 genotypes （ LQTS 1-13 ）. Clinical evidences on significant correlation between genotype and phenotype have been reported. To date, several therapies play an important role in primary and secondary prevention of hereditary LQTS, including beta-adrenergic receptor blockers, heart pacing, implantable cardioverter defibrillator and left cervicothoracic sympathectomy.