胎儿长QT间期综合征的产前诊治和管理进展

The advance on the prenatal diagnosis and management of fetal long QT syndrome

长QT间期综合征(long QT syndrome,LQTS)是一种罕见且致死性较高、具有遗传性质的离子通道型疾病,病因为编码离子通道或亚单位的基因突变,特点为QTc间期延长及频发恶性心律失常。因为一些胎儿LQTS可能导致胎死宫内或新生儿时期死亡,所以产前怀疑或诊治及管理胎儿LQTS,不仅可能降低患胎生命危险,而且可能改善患儿出生后的生存质量及预后,现就胎儿期LQTS的诊治及管理进展进行讨论。

Long QT syndrome(LQTS)is a rare and inherited cardiac channelopathy with high lethality,which is characterized by prolonged QTc interval and frequent malignant arrhythmia,the cause of the disease is that mutations of genes coding for cardiac ion channel subunit or channel associated proteins.Since some fetal LQTS may die in utero or neonatal period,thus,prenatal suspicion or diagnosis of fetal LQTS may improve their outcome and prognosis.Therefore,this review prepares to discuss around the prenatal diagnosis and management of fetal LQTS.