6个先天性长QT综合征的家系调查与分析

Clinical Investigate and Analysis 6 LQTS Families

调查与分析 6个先天性长QT综合征 (LQTS)家族的发病情况、临床和心电图特点以及相应的表现型和基因型。固定专人 ,由两名以上的内科医生按统一制定出的家族调查表采集 6个家族成员的临床病史 ,按常规进行体格检查 ,采集静息状态 3或 12导联体表心电图 ,测量QT间期和QT间期最长的导联T波顶点至T波终点的间距作为跨室壁离散度的指标 (TDR)。用Bazett公式计算QTc和TDRc。结果 :6个家族 10 1例成员中 ,有 2 7例LQTS患者。其中有症状者 15例 (死亡 5例 ) ;疑似患者 30例 ,有症状LQTS患者与无症状患者之间的QTc、QTd和TDRc有显著的差异 ,而无症状患者与疑似者之间只有TDRc有差异。遗传特征表明 ,3个家系符合常染色体显性遗传病的特点。结论 :通过家族调查和心电图分析 ,可以基本准确的诊断LQTS ,推测相应的基因型。

Investigate the genetic regular, clinical characteristics, diagnosis of long QT syndrome (LQTS) and try to find out the phenotype and genotype of the LQTS family patients. The routine clinical check was done. Basic ECG was recorded and used to analyze the pattern of the T wave. QT and TDR were measured on V_2 or II lead. QT and TDR were corrected by Bazett formula. The diagnostic criteria for LQTS defined by Schwartz.Result: Among 101 family members, there were 27 patients with LQTS,including 15 symptomatic and 12 asymptomatic ones.There were 30 intermediate probability.There was significant difference in QTc, QTd and TDRc between the symptomatic and asymptomatic patients. There was difference in TDRc between the asymptomatic patients and intermediate probability. Pedigree analysis was compatible with law of autosomal dominant inheritance.Conclusion:It is a useful method to diagnosis and distinguishes from types of LQTS by family investigation and ECG analysis.