先天性长QT综合征的临床特点

Clinical characteristics of congenital long QT syndrome

目的 强调先天性长 QT综合征 ( L QTS)患者临床特点的重要性。方法 对 4例 L QTS患者的临床和心电图特点进行分析 ,并对其临床诊断、发病机制、治疗及分子遗传学研究加以讨论 ,并行 4例家系调查分析。结果 4例均为女性 ,家系中除 1例外均为女性 ,QT间期均延长 ,反复发作性晕厥 ;4例均为 Romano- Ward综合征。 结论 L QTS是一个不难诊断的疾病 ,目前已有有效的治疗措施 ,应提高诊断率 。

Objective To strengthen the clinical importance of congenital long QT syndrome. Methods Based on investigations on the clinical manifestations,ECG characteristics and family histories in 4 patients and their family members,the clinic diagnosis,molecular genetic mechnisms and treatment were discussed. Results All four patients were females.They all belong to Romano Ward syndrome.Even the manifestating patients in their family pedigrees were all females except one.They all had prolonged QT intervals,repeated episodes of syncopal attacks. Conclusions LQTS is a disease rather easy to be diagnosed and there are effective treatments nowadays.Attention should be paid not to miss LQTS patients.