76个长QT综合征先证者临床特征和治疗情况研究

Clinical Characteristics and Treatment for 76 Long QT Syndrome Probands.

为研究我国长QT综合征 (LQTS)患者的整体发病和治疗情况 ,选择按照 1993年Schwartz等提出的LQTS诊断标准确诊为本病的家系 76个。对先证者及其家族成员进行 6或 12导联ECG同步记录 ,对先证者的临床情况进行综合分析。结果 :先症者发病年龄 17.2± 14 .8岁 ,在 2 0岁以前发病的占 5 9.2 % ;以女性居多 ;发病症状有晕厥、黑、心悸、胸闷及其它如抽搐、胸背痛、头晕等 ;诱发因素有情绪紧张或激动、劳累、运动或体力劳动等 ;患者的QTc值为 0 .5 6± 0 .0 9s。LQTS患者的ECG上T波多变 ,QT间期可出现暂时正常化。在 76个LQTS先证者中 ,同时伴聋哑 1例 ,预激综合征 1例 ,心肌炎 2例 ,束支阻滞 2例 ,一过性房室阻滞 1例 ,高血压病 2例。根据ECG特点预测LQTS患者的基因型 :LQT1占 (31.6 % ) ,LQT2占 (5 3.9% ) ,LQT3占 (3.9% ) ,其余 (10 .5 % )心电图特征不明显 ,无法预测。多数患者服用 β 阻断剂类药物有效 ;在药物效果不好的患者中 ,有 4例安装起搏器 ,1例应用埋藏式心脏复律除颤器 (ICD) ,15例进行左心交感神经切除术 (LCSD) ,其中多数继续服用 β 阻断剂。结论 :我国的LQTS发病情况和临床表现与国外报道基本一致 ;根据ECG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。β

To study the clinical manifestations and therapy of Chinese long QT syndrome (LQTS) patients.According to the criteria by Schwartz 1993, 76 patients who came from 18 provinces were diagnosed as LQTS. 6 or 12 lead 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 17.2±14.8, and 59.2% of patients had their first attack before the age of 20. The sex distribution (male:female) was around DK( 1∶3 DK) , and the most prominent symptom was syncope (90.8%). The triggers were emotional stress, physical stress, exercise or overwork,etc.The QTc for probands was 0.56±0.09 s. The T wave morphology was varied, and QT interval could become temporarily normal. Among 76 probands, 1 case accompanied by deaf mute, 1 case by WPW, 2 cases by myocarditis, 2 cases by branch block, 1 by temporary atrial ventricular conduction block and 2 by hypertention. The predictive genotypic results by ECG characteristics were LQT1 (31.6%), LQT2 (53.9%), LQT3 (3.9%), and unpredictable (10.5%). The therapy with β blockers were effective in most patients. The pacemaker with or without β blocker were effective for 4 patients and ICD plus β blocker were effective for 1 patient. Left cardiac sympathetic denervation (LCSD) was performed on 15 patients. Conclusion:The general clinical manifestations for Chinese LQTS patients are consistent with that reported by investigators from other countries. The predictive genotype results by ECG characteristics suggests that the major genotype for Chinese LQTS patients might be LQT2. β blockers are the first line therapy for LQTS patients. LCSD, pacemaker and ICD are the choices for β blocker resistant patients. Cardiology Long QT syndrome Surface electrocardiogram Corrected QT interval Genotype prediction β blocker