三维斑点追踪技术对于携带MYH7基因突变的肥厚型心肌病患者预后评估的价值

The role of three-dimensional speckle tracking imaging derived parameters on predicting outcome of hypertrophic cardiomyopathy patients with MYH7 mutations

目的采用三维斑点追踪(3D-STI)技术联合二维和多普勒超声对携带β-肌球蛋白重链基因(MYH7)基因突变的肥厚型心肌病(HCM)患者心功能特征进行全面评估,以期找到可预测此类患者不良心血管事件的超声指标。方法该研究为回顾性研究。连续入选2014年10月至2016年10月在西京医院肥厚型心肌病诊治中心就诊的携带MYH7基因突变的成人HCM患者43例,根据有无终点事件发生分为2组,即终点事件组(n=13)和无终点事件组(n=30)。收集入选患者的一般临床资料、超声心动图检测结果及随访结果,记录终点事件的发生情况。终点事件:一级终点事件包括心脏性猝死(SCD),心脏骤停抢救存活或植入埋藏式心脏除颤器(ICD)适当放电;二级终点事件包括急性心梗,因心力衰竭住院,血栓栓塞,室上性心律失常致血流动力学不稳定,终末期HCM。结果43例患者均完成随访,随访时间1012(812,1330)d。13例(30.2%)患者发生终点事件,其中6例(14.0%)发生一级终点事件(SCD 2例、心脏骤停抢救存活3例、ICD适当放电1例),7例(16.3%)发生二级终点事件(因心力衰竭住院5例、室上性心动过速致晕厥复律1例、终末期HCM 1例)。与无终点事件组比较,终点事件组患者5年SCD风险评分较高(P<0.05),发生晕厥的患者比例较高(P<0.05),左心房容积指数(LAVI)较大(P<0.05),左心室三维整体纵向应变(GLS)绝对值较低(P<0.05)。校正年龄、性别后多因素Cox回归分析结果显示,GLS是携带MYH7基因突变的HCM患者发生不良心血管事件的独立预测因素(HR=0.814,95%CI 0.663~0.999,P=0.049)。受试者工作特征(ROC)绝对值曲线评估结果显示,GLS绝对值≤13.67%的患者更易发生不良心血管事件(AUC=0.753,95%CI 0.558~0.948,P<0.05),敏感度为86%,特异度为69%。Kaplan-Meier生存曲线结果进一步显示,GLS绝对值≤13.67%的HCM患者无终点事件生存率明显低于GLS绝对值>13.67%的患者(P<0.05)。结论3D-STI指标GLS可作为携带MYH7基因突变的HCM患者不良心血管事件的预测指标。

Objective To evaluate the cardiac functional changes in hypertrophic cardiomyopathy(HCM)patients withβ-myosin heavy chain gene(MYH7)mutations by three-dimensional(3D)speckle tracking imaging(3D-STI)and conventional echocardiography modalities,and then to explore the potential predictors of adverse cardiovascular events in these patients.Methods A consecutive series of 192 HCM patients admitted in our center from October 2014 to October 2016 were genetically screened to identify MYH7 mutations in this retrospective study.A total of 43 HCM patients with MYH7 mutations were enrolled.The patients were divided into events group(n=13)and no event group(n=30)according to the presence or absence of adverse cardiovascular events(primary and secondary endpoints).All patients were followed up to January 2019 after comprehensive evaluation of 3D-STI,two-dimensional and Doppler echocardiography.The adverse cardiovascular events were recorded.Results The median follow up time was 1012(812,1330)days.During follow-up,13 patients(30.2%)reached endpoints:6 cases of the primary endpoints(2 cases of sudden cardiac death(SCD),3 cases of survival after defibrillation,and 1 case of appropriate implantable cardioverter-defibrillator(ICD)discharge);7 cases of the second endpoints(5 cases of heart failure hospitalization,1 case of syncope and cardioversion due to supraventricular tachycardia,and 1 case of end-stage HCM).Patients with adverse cardiovascular events had higher prevalence of syncope and risk of SCD,enlarged left atrial volume index(LAVI)and reduced 3D left ventricular global longitudinal train(3D-GLS),as compared to those without adverse events(all P<0.05).The multivariate Cox regression analysis showed that reduced 3D-GLS(HR=0.814,95%CI 0.663-0.999,P=0.049)was an independent predictor for adverse cardiovascular events.The cutoff value of 3D-GLS≤13.67%was linked with significantly increased risk of adverse cardiovascular events in this patient cohort(AUC=0.753,95%CI 0.558-0.948,sensitivity 86%,specificity 69%,P<0.05).The Kaplan-Meier analysis indicated that the patients with the 3D-GLS≤13.67%faced higher risk of death than those with 3D-GLS>13.67%.Conclusion 3D-GLS is useful on predicting adverse cardiovascular events in HCM patients with MYH7 mutations.