三维斑点追踪超声心动图早期识别家族性肥厚型心肌病无症状突变基因携带者的临床价值  

Clinical value of three-dimensional speckle tracking echocardiography in early identification of asymptomatic mutation gene carriers in familial hypertrophic cardiomyopathy

作　　者：崔丽萍[1] 段奕全 梁青青 吴楠 纳丽莎 CUI Liping;DUAN Yiquan;LIANG Qingqing;WU Nan;NA Lisha(Department of General Practitioner,General Hospital of Ningxia Medical University,Yinchuan 750004,China)

机构地区：[1]宁夏医科大学总医院全科医学科,银川市750004 [2]宁夏医科大学总医院心脏中心功能检查部,银川市750004 [3]宁夏医科大学临床医学院

出　　处：《临床超声医学杂志》2023年第10期800-805,共6页Journal of Clinical Ultrasound in Medicine

基　　金：宁夏回族自治区重点研发计划项目(2021BEG03063)

摘　　要：目的探讨应用三维斑点追踪超声心动图(3D-STE)早期识别家族性肥厚型心肌病(FHCM)无症状突变基因携带者(G+P-者)的临床价值。方法纳入我院确诊为FHCM患者的直系亲属56例,依据基因检测结果进行分组,其中G+P-者(病例组)22例,未携带突变基因者(G-P-者,对照组)34例,收集其临床资料并行常规超声心动图和3D-STE检查,测量并比较各参数的差异。采用二元Logistic回归分析筛选鉴别G+P-者与G-P-者的影响因素,并建立回归方程;绘制受试者工作特征(ROC)曲线验证其早期识别G+P-者的效能。结果与对照组比较,病例组左室最大室壁厚度、左室流出道最大速度、左室流出道压力阶差、左室流出道速度时间积分(LVOT-VTI)、E峰减速时间、二尖瓣口舒张早期血流速度峰值与二尖瓣环室间隔及侧壁舒张早期运动速度峰值平均值的比值均增大,左室整体纵向应变(GLS)减低,差异均有统计学意义(均P<0.05)。Logistic回归分析显示,LVOT-VTI、GLS均为鉴别G+P-者与G-P-者的独立危险因素。建立的回归方程为:Logit(P)=7.777+0.681X_(1)+0.738X_(2)(X_(1):LVOT-VTI;X_(2):GLS)。该模型早期识别G+P-者的曲线下面积为0.906(95%可信区间:0.830~0.983),以3.450为截断值,其灵敏度为0.909,特异度为0.735,准确率为80.4%。结论应用3D-STE所测LVOT-VTI和GLS可作为鉴别G+P-者与G-P-者的可靠指标,为临床早期识别FHCM无症状G+P-者提供了一种新方法。Objective To investigate the clinical value of three-dimensional speckle tracking echocardiography(3D-STE)in early identification of asymptomatic mutation gene carriers(G+P-)in familial hypertrophic cardiomyopathy(FHCM).Methods A total of 56 cases of immediate family members of FHCM patients diagnosed in our hospital were selected and grouped according to the results of gene testing,including 22 cases of G+P-patients(case group)and 34 cases of patients without mutation gene(G-P-patients,control group).Their clinical data were collected,and examined by conventional echocardiography and 3D-STE.The differences of various parameters were measured and compared.Binary Logistic regression analysis was used to screen the influencing factors of distinguishing G+P-patients from G-P-patients,the regression equation was established.Receiver operating characteristic(ROC)curve was drawn to verify the effectiveness of early identification of G+P-patients.Results Compared with the control group,maximum left ventricular wall thickness,maximum left ventricular outflow tract velocity,left ventricular outflow tract pressure gradient,left ventricular outflow tract velocity time integral(LVOT-VTI),E peak deceleration time,and E/e’in the case group were increased,and left ventricular global longitudinal strain(GLS)was decreased,the differences were statistically significant(all P<0.05).Logistic regression analysis showed that LVOT-VTI and GLS were independent risk factors for distinguishing G+P-patients from G-P-patients.The established regression equation was:Logit(P)=7.777+0.681X_(1)+0.738X_(2)(X_(1):LVOT-VTI;X_(2):GLS).The area under the curve of the model for early identification of G+P-was 0.906(95%confidence interval:0.830~0.983),with 3.450 as the cut-off value,the sensitivity was 0.909,the specificity was 0.735,and the accuracy was 80.4%.Conclusion The LVOT-VTI and GLS measured by 3D-STE can be used as reliable indicators to distinguish G+P-patients from G-P-patients,which provides a new method for early clinical identificatio

关 键 词：超声心动描记术 斑点追踪 三维 肥厚型心肌病 家族性 基因突变 

分 类 号：R540.45[医药卫生—心血管疾病]