16个先天性长QT综合征先证者临床分析  

Clinical characteristics of 16 probands with long QT syndrome

作　　者：薛小临[1] 杨海涛[1] 孙超峰[1] 张爱峰[1] 王东琦[1] 崔长琮[1] 

机构地区：[1]西安交通大学医学院第一附属医院,710061

出　　处：《中华心律失常学杂志》2008年第5期345-347,共3页Chinese Journal of Cardiac Arrhythmias

摘　　要：目的研究我国西北地区先天性长QT综合征（LQTS）患者的发病、治疗及预后情况。方法回顾性分析西北地区确诊为LQTS的家系16个。对先证者及其家族成员进行同步6或12导联心电图记录，对先证者的临床情况进行综合分析。结果先证者发病年龄（19．2±14．8）岁。在20岁以前发病者占59．2％。患者以女性居多，男女比例3：13（18．8％：81．2％）。发病症状多以晕厥为主要表现15例（93．7％）；症状发作多有明显诱发因素14例（87．5％）；根据心电图特点预测LQTS患者的基因型：LQT1占5例（31．2％），LQT2占8例（50．0％），LQT3占2例（12．5％），其余1例（6．3％）心电图特征不明显，无法预测。根据心电图预测LQTS患者的基因型进行了6个家系（2个LQT3，4个LQT2）的基因筛查发现了3个KCNH2突变点，基因型和表型的符合率50％。多数患者服用β受体阻滞剂类药物有效；在药物效果不好的患者中，有2例植入起搏器。结论西北地区LQTS发病情况和临床表现与国外报道基本一致；根据心电图特点对LQTS患者进行的基因分型预测结果显示，我国的LQTS患者可能以LQT2为主，但基因型和表型有一定的差别；母受体阻滞剂可使多数患者的症状得到控制；对β受体阻滞剂疗效不好的患者，植人起搏器可提高疗效。Objective To study the clinical manifestations, treatment and prognosis of Chinese northwest area long QT syndrome （LQTS） patients. Methods Sixteen families of LQTS were analyzed, Six or 12 leads electrocardiogram（ECG） for the probands and their family members was recorded and clinical manifestations for all probands were analyzed. Results The age distribution for the first attack of probands was （ 19. 2 ± 14. 8 ）, and 59. 2% of patients had their first attack before the age of 20. The sex distribution（ male： female） was around 3 ： 13, and the most prominent symptom of 15 patients （ 93.7% ） was syncope. Fourteen patients （87. 5% ）had triggers before symptom. The predictive genotypic results by ECG characteristics were LQTI （5 patients, 31.2% ）, LQT2 （ 8 patients, 50. 5% ）, LQT3 （ 2 patients, 12. 5% ）, and unpredictable （ 1 patient, 6. 3% ）. Three KCNH2 mutations had been identified in six families（4 LQT2,2 LQT3）. The correlation of genotype-phenotype was 50%. The therapy with β-blockers was conducted on most patients. The pacemaker was effective for 2 patients. Conclusion The general clinical manifestations for chinese north-west LQTS patients are consistent with that reported by investigators from other countries. The predictive genotype results by ECG characteristics suggest that the major genotype for Chinese north-west area LQTS patients might be LQT2. However, there are difference between genotype and phenotype. β-blockers are effective therapy for LQTS patients. Pacemaker implantation is the choice for β-blocker resistant patients.

关 键 词：长QT综合征 心电图 校正的QT间期 Β受体阻滞剂 

分 类 号：R541.1[医药卫生—心血管疾病] R18[医药卫生—内科学]