摘要
目的 1例Brugada综合征合并先天性长QT综合征的家系的临床研究。方法 对夜间反复发作性晕厥的先证者进行冠状动脉 ,左、右心室造影和电生理检查及药物试验 (异丙肾上腺素和普罗帕酮 ) ;对其家族成员进行病史询问、体格检查、超声心动图、动态心电图和药物试验 ,同时记录右侧胸前导联 (V1～V3 )上两个肋间的心电图。结果 家族中有两例猝死 ,均发生在睡眠中。家族成员未被发现器质性心脏病。先证者心电图表现为右侧胸前和下壁导联ST段抬高 ,住院期再次发生夜间晕厥记录到心电图为多形室性心动过速 (室速 )。冠状动脉及左、右心室造影正常 ,电生理检查诱发多形室速。异丙肾上腺素试验时ST段正常 ,QTc间期明显延长 ;普罗帕酮试验阳性。另两例家族成员 ,右侧胸前导联上一或二肋间心电图呈典型Brugada综合征改变 ,异丙肾上腺素试验QTc间期亦明显延长 ,1例普罗帕酮试验阳性。结论结果表明可能是由于一种新的钠通道基因 (SCN5A)突变类型同时引起Brugada综合征和先天性长QT综合征。
Objective The clinical and familial study of a Brugada syndrome combined with long QT syndrome. Methods The proband with repeated syncope attacks during sleep underwent the coronary angiography,ventriculography,electrophysiolgical study,isoproterenol test and propafenone challenge.The familial members were submitted to extensive evaluations,including history,physical examination,echocardiogram,Holter monitoring,12 leads ECG,higher right precordial leads(V_1～V_3) ECG of one and/or two intercostals higher than standard position,isoproterenol test and propafenone challenge.Results Two familial members died suddenly during sleep.All the members were found structurally normal heart by echocardiogram.ST segment elevation in precordial and inferior leads was documented in proband.The proband had got syncope attack again during night sleeping in hospital.The monitoring eletrocardiogram showed polymorphic ventricular tachycardia.The coronary arteries and heart structure were normal documented by coranary angiography and ventriculography.The polymorphic ventricular tachycardia was induced during electrophysiological study.The ST segment was normal and QTc interval was significantly longer than normal during isoproterenol infusion.He got a positive propafenone challenge.The two members also showed typical Brugada's ECG change in higher one or two intercostals right precordial leads.The QTc interval was significant longer than normal during isoproterenol infusion in both.One of them also got positive propafenone challenge.Conclusion This study demonstrated a possible novel SCN5A mutation leading to Brugada and long QT sydrome.
出处
《中华心律失常学杂志》
2003年第6期332-335,共4页
Chinese Journal of Cardiac Arrhythmias
