一个遗传性长QT综合征初步家系分析及治疗随访

Preliminary analysis of a family with congenital long QT syndrome and follow-up for treatment effect

目的对临床中发现的一个长QT综合征家系进行初步分析并对治疗效果进行随访。方法收集该家系所有成员的临床资料,绘制家系图谱,并对治疗结果进行长期随访。结果该家系成员有四名符合长QT综合征诊断标准,对两名有猝死发作史患者行永久起搏器+美托洛尔缓释片治疗,对一名无症状患者予美托洛尔缓释片治疗,效果明确。结论该家系符合目前报导的长QT综合征家系遗传特点;美托洛尔缓释片及起搏器治疗长QT综合征效果较明确。

Objective To preliminarily analyze a family with congenital long QT syndrome(CLQTS) and to follow up the treatment effect. Methods The clinical data of all family members was collected, and the family relationship map was drawn. The treatment results were followed up for a long time. Results The family had four members who meet the criteria for the diagnosis of long QT syndrome. Two patients with a history of sudden death were treated with permanent pacemaker combined with metoprolol sustained-release tablets, and another asymptomatic patient only received metoprolol sustained-release tablets, with significant effect. Conclusion The family is in line with the current report of the family genetic characteristics with congenital long QT syndrome. Using metoprolol sustained-release tablets and permanent pacemaker for long QT syndrome is relatively effective.