Brugada综合征合并先天性长QT综合征一例

目的报告1例反复发作晕厥伴胸前导联J—ST—T显著抬高患者的临床过程。方法1例15岁男孩反复于夜间卧床休息时发生晕厥，对该患者及其父母进行病史询问、体格检查、心电图及超声心动图检查，并行普罗帕酮激发试验。对患者进行冠状动脉，左、右心室造影和心内电生理检查。结果患者及其父母无器质性心脏病依据，无阳性猝死家族史。患者直立倾斜试验阴性，冠状动脉和左、右心室造影正常，心内电生理检查未发现异常，未诱发室性心律失常。患者基础心电图胸前导联J-ST—T显著抬高，晕厥后窦性心动过速时J—ST—T降低伴QTc延长。静脉注射普罗帕酮70mg后胸前导联J—ST与T波第二峰进一步抬高。患者母亲基础心电图ST—T类似于LQT3，但QTc正常。患者父母在静脉注射普罗帕酮70mg后胸前导联ST—T均进一步抬高。结论该患者心电图不同于已报道的Brugada综合征合并LQT3，可能为新的SCN5A基因突变导致的一种新的表型。

The clinical investigation of a case of Brugada syndrome combined with long QT syndrome

Objective The clinical investigation of a 15-year-old boy with frequent syncope attacks and the ECG manifesting a J-ST-T elevation in leads V1 through V4. Methods The patient was referred for repeated syncope attacks during night. He and his parents were submitted to extensive evaluations, including history, physical examination, ECG, echocardiogram, and propafenone challenge testing. The patient underwent coronary angiography, ventriculography and electrophysiological study, Results The patient and his parents have no evidence of a structural heart disease, and have no positive family history of sudden cardiac death. In the patient, the head-up tilt table test was negative, the coronary arteries and heart structure were normal documented by coronary angiography and ventriculography. During electrophysiological study no ventricular arrhythmias were induced. Baseline ECG exhibited a J-ST-T elevation in leads V1 through V4. After syncopy, the ECG showed sinus tachycardia and QTc interval was significantly longer than normal, and ST-T was depressed in precordial and inferior leads. Intravenous propafenone 70 mg intravenously enhanced the J-ST segment elevation and the second peak T wave of leads V2 through V4. His mother exhibited a asymmetrical peaked T wave similar to that seen in LQT3 at baseline ECG, but QTc was normal. His parents showed a ST-T elevation in precordial leads after propafenone challenge. Conclusion The patient may be a new phenotype with concurrent Brugada syndrome and LQT3 results from a novel SCN5A mutation.