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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。
A clinical study of 1 pedigree with Brugada syndrome complicated with congenital long QT syndrome. Methods Coronary, left and right ventriculographs and electrophysiological tests and drug tests (isoproterenol and propafenone) were performed on probands with recurrent syncope at night. His family members were examined for medical history, physical examination, ultrasonography Cardiogram, Holter, and drug tests were performed while the electrocardiogram of the two intercostals on the right anterior chest lead (V1-V3) was recorded. Results There were two sudden deaths in the family, both of which occurred during sleep. Family members were not found to have organic heart disease. The proband’s electrocardiogram showed ST segment elevation on the right chest anterior and inferior leads, and recurrent nocturnal convulsions in the hospital stay were recorded as pleomorphic ventricular tachycardia (VT). Coronary and left and right ventriculography normal, electrophysiological examination induced polymorphic VT. Isoproterenol test ST segment normal, QTc interval was significantly prolonged; propafenone test was positive. Another two cases of family members, the right chest anterior or two intercostal ECG on the intercostal ECG showed a typical Brugada syndrome, isoproterenol test QTc interval was also significantly prolonged, and 1 propafenone test was positive. Conclusions The results suggest that a new type of mutation in the sodium channel gene (SCN5A) may be responsible for both Brugada syndrome and congenital long QT syndrome.