Fosdal I, Wettrell G, Christiansen M, Kanters J K, Larsen L A
Barn- och ungdomsmedicinska kliniken, Visby lasarett.
Lakartidningen. 2001 Feb 21;98(8):810-5.
Molecular genetic studies in congenital long QT syndrome have characterized genes and mechanisms of arrhythmias. At least six genes encoding cardiac potassium and sodium ionic channels have been described with several mutations in each gene. The altered function produces abnormal cardiac repolarization seen on ECG as prolongation of the QT-interval and T-wave abnormalities. This may increase the propensity for ventricular arrhythmias such as Torsade de Pointe, the cause of unexpected syncope and sudden death in young patients. Clinical manifestations vary depending on the genotype present. Gene-specific therapies have recently been tried. Initial therapy of choice for symptomatic and also asymptomatic children is administration of beta-blockers.
先天性长QT综合征的分子遗传学研究已经明确了心律失常的相关基因和机制。至少有六个编码心脏钾离子和钠离子通道的基因已被描述，每个基因都有几种突变。功能改变会导致心电图上出现异常的心脏复极化，表现为QT间期延长和T波异常。这可能会增加室性心律失常的倾向，如尖端扭转型室速，这是年轻患者意外晕厥和猝死的原因。临床表现因存在的基因型而异。最近已经尝试了基因特异性疗法。有症状和无症状儿童的首选初始治疗方法是使用β受体阻滞剂。
