遗传性长QT综合征合并房颤家系的临床研究

Congenital Long QT syndrome with atrial fibrillation: a pedigree investigation

关键词:  长QT综合征  房颤  房室传导阻滞  早期复极综合征

Key words:  long QT syndrome(LQTS)  atrial fibrillation  atrioventricular conduction block  early repolarization syndrome(ERS)

摘要:

［目的］探讨一个遗传性长QT综合征（LQTS）合并房颤家系的临床特点。［方法］对该家系包括先证者在内的三代44例家族成员进行常规临床检查、心电图、动态心电图、超声心动图等检查。［结果］先证者诊断LQTS合并阵发性房颤。6例临床确诊LQTS，8例疑诊LQTS。先证者母亲有晕厥和房颤病史，包括先证者在内2例LQTS合并房颤，另外1例为持续性房颤合并III度房室传导阻滞；阵发性房速2例，有可疑房颤症状2例。2例青少年家族成员心电图表现早期复极综合征，其中1例有晕厥，疑诊LQTS。［结论］LQTS合并房颤是一种少见的临床情况，同时又合并传导阻滞临床罕见。早期复极综合征可能不一定总是良性临床经过。遗传性疾病的家系研究是进一步基因学研究的基石。

Abstract:

［Objective］To investigate the clinical characteristics of a congenital Long QT Syndrome (LQTS) family with atrial fibrillation (AF).［Methods］Forty-four family members including the proband were screened with routine clinical examination, Echocardiograph, Electrocardiography (ECG) and Holter recording.［Results］The proband was diagnosed as LQTS and paroxysmal AF. Six family members were diagnosed as LQTS, in which AF was detected in the proband and her sister, who also experienced III degree atrioventricular block (AVB). Eight cases were suspected diagnose as LQTS. Atrail tachycardia was recorded in one LQTS and one suspected LQTS patient. ECGs of two teenagers in the family revealed early repolarization syndrome (ERPS) with normal QTc. One of them experienced syncope with suspected LQTS.［Conclusions］LQTS with AF is not a common clinical situation, it is rare that LQTS with AF accompanied by III degree AVB. ERPS may be not always a benign clinical condition. Family investigation is valuable for further gene analysis.