心电图对家族性肥厚型心肌病肌小节突变基因携带者早期诊断的价值  

The early diagnostic value of ECG for sarcomere mutation carriers with family hypertrophic cardiomyopathy

作　　者：张娟 刘丽文 朱晓丽 王博 杨倩利 邵虹 张国庆 左蕾 雷常慧 徐磊 李静 张艳敏[4] 张军 Zhang Juan;Liu Li-wen;Zhu Xiao-li;Wang Bo;Yang Qian-li;Shao Hong;Zhang Guo-qing;Zuo Lei;Lei Chang-hui;Xu Lei;Li Jing;Zhang Yan-min;Zhang Jun(Department of Ultrasound, Hypertrophic Cardiomyopathy Center, Xijing Hospital Affiliated to the Air Force Military Medical University, Shanxi Provincial Center of Multidisciplinary Diagnosis, Treatment and Consultation of Hypertrophic Cardiomyopathy, Xi’an Shanxi 710032;ECG Room, Department of Cardiology, Xijing Hospital Affiliated to the Air Force Military Medical University, Xi’an Shanxi 710032;Special Branch Consultation, PLA No. 323 Hospital, Xi’an Shanxi 710054;Department of Paediatrics, Xi’an Children’s Hospital, Xi’an Shanxi 710043, China)

机构地区：[1]空军军医大学西京医院超声医学科、肥厚型心肌病中心,陕西省肥厚型心肌病多学科诊治与会诊中心,陕西西安710032 [2]空军军医大学西京医院超声医学科、肥厚型心肌病中心,心内科心电图室,陕西西安710032 [3]解放军第三二三医院特诊科,陕西西安710054 [4]西安市儿童医院儿科,陕西西安710043

出　　处：《实用心电学杂志》2018年第6期386-391,共6页Journal of Practical Electrocardiology

基　　金：国家科技部国际合作专项(2014DFA31980);国家科学自然基金(81671693,81601498);陕西省重点项目(2017ZDXM-SF-058);西京医院新技术、新业务资助项目(417432A);陕西省重点科技创新团队(2014KCT-20)

摘　　要：目的探讨心电图对家族性肥厚型心肌病(family hypertrophic cardiomyopathy,FHCM)肌小节突变基因携带者早期诊断的价值。方法选择FHCM患者亲属中携带肌小节突变基因但无左心室肥厚者60例为基因阳性表型阴性(G^+/P^-)组,亲属中未携带肌小节突变基因且无左心室肥厚者73例为基因阴性表型阴性(G^-/P^-)组并将其作为对照组。两组性别和年龄匹配,分析两组常规12导联心电图指标;采用受试者工作特征(ROC)曲线,评估心电图参数诊断FHCM肌小节基因突变携带者的效能。结果 (1) G^+/P^-组Ⅰ、aVR、aVF导联的QRS间期及V_1、V_2导联R波振幅均显著大于对照组(G^-/P^-组)(P <0. 05); V_4～V_6导联R波振幅均显著小于对照组(G-/P-组)(P <0. 05);(2) G^+/P^-组心电图T波改变(T波低平、T波倒置、T波双向)率显著高于对照组(28. 3%vs. 19. 2%,P <0. 05)。两组心电图的SokolowLyon电压指数(S_(V1)+R_(V5)或R_(V6)≥3. 5 m V)、异常Q波、碎裂QRS波(f QRS)所占比例比较,差异均无统计学意义(P> 0. 05)。结论 FHCM肌小节基因突变携带者早期心电图的改变为QRS间期的延长、胸导联R波振幅的改变以及T波的改变,对FHCM肌小节基因突变携带者早期诊断有一定参考价值。Objective To explore the value of ECG in spotting sarcomere mutation carriers with family hypertrophic cardiomyopathy(FHCM)at an early phase.Methods We selected 60 FHCM patients’relatives carrying sarcomere mutations but not complicating left ventricular hypertrophy as gene positive/phenotype negative group(G^+/P^-group)while 73 FHCM patients’relatives without carrying sarcomere mutation or left ventricular hypertrophy were considered as gene negative/phenotype negative group(G^-/P^-group or control group).The G^+/P^-group and control group were well matched in sex and age.Conventional 12-lead ECG indexes were analyzed between the two groups.The efficacy of ECG parameters in diagnosing FHCM sarcomere mutation carriers was evaluated by the receiver operating characteristic curve(ROC)analysis.Results(ⅰ)The QRS duration of leadⅠ,aVR and aVF,and R-wave amplitude in lead V 1 and V 2 in G^+/P^-group were significantly higher than those in control group(P<0.05);in G^+/P^-group,R-wave amplitude in lead V 4-V 6 were significantly lower if compared with the control group(P<0.05).(ⅱ)The proportion of T-wave changes(including T-wave flatness,inversion and bidirection)in G^+/P^-group was significantly higher than that in the control group(28.3%vs.19.2%,P<0.05).There was no statistically significant difference of Sokolow-Lyon voltage index(SV 1+R V5 or R V6≥3.5 mV),abnormal Q-wave and the proportion of fragmented QRS wave between the two groups(P>0.05).Conclusion Among the FHCM patients carrying sarcomere mutation,ECG changes are manifested by the prolongation of QRS duration,amplitude variation of R-wave in chest leads and T-wave changes at an early phase,which are valuable for making early diagnosis for these patients.

关 键 词：家族性肥厚型心肌病 肌小节基因突变携带者 12导联心电图 

分 类 号：R542.2[医药卫生—心血管疾病] R540.41[医药卫生—内科学]