Assessment Of Left Ventricular Systolic Function And Synchrony In Early Stage Of Pathogenic Gene Carriers Of Ningxia Han Familial Hypertrophic Cardiomyopathy By Three-Dimensional Speckle Tracking Echocardiography

Objective To explore the value of three dimensional speckle tracking echocardiography(3D-STE)in evaluating the changes of left ventricular systolic function and synchrony in pathogenic gene carriers(G+/P-)of Ningxia Han familial hypertrophic cardiomyopathy(HCM).Methods Four different han HCM families with gene mutations were studied according to the whole-exome sequencing of next-generation sequencing of all the HG19 genome for proband and Sanger sequencing.Here,27 patients with HCM pathogenic gene mutations were studied,in which 14 subjects without left ventricular hypertrophy were included in the G+/PGroup,other 13 subjects with left ventricular hypertrophy were included in the G+/P+ Group.In addition,there were 24 subjects in the control group without HCM pathogenic gene mutations in family members of patients.A diagnostic ultrasound system iE33(Philips Medical Systems,Bothell)S5-1 phased array probe was used to acquire and measure two-dimensional images and ultrasonic parameters of all subjects,X5-1 matrix probe was used to obtain three-dimensional image of left ventricular full volume,The three-dimensional strain and synchrony parameters of left ventricle were measured with Tom Tec 4D LV analysis 3.0 software.The differences of the above parameters among the three groups were analyzed and the correlation of some parameters were studied.Results 1.The values of IVSD,LVPWD,LVOT-V,LVOT-PG,LVOT-VTI,EDT and E/Ea were significantly higher in the G+P-group and the G+P+ group than that in the control group(P<0.05).The G+P+ group showed significantly increased or prolonged values of LAVI,LVMI and IVRT compared with the control group(P<0.05).2.The values of GLS,GRS were significantly decreased in the G+P-group and the G+P+ group compared with the control group but no significant difference was found in GCS.The values of GLS,GRS were significantly higher in the G+P-group than that in the G+P+ group(P<0.05).3.The value of TLS-SD% was significantly prolonged in the G+P-group compared with the control group(2.51±1.32 vs 1.60±1.17,P=0.047),but other synchronization parameters showed a prolonged trend with no significant difference between the two groups.The value of TCS-SD%,TLS-SD%,TRS-SD%,TCS-diff%,TLS-diff%,TRS-diff% in the G+P+ group were significantly prolonged compared with the control group(P<0.05).4.The value of GLS,TLS-SD% were positively correlated with the value of IVSD and LVPWD.The value of GRS and IVSD showed a negative correlation,but no correlation was found in the value of GRS with LVPWD.No correlation were found in the value of LVEF,LVOT-PG% with any of the3 D parameters.5.ROC curve analysis identified the G+P-HCM patients with 78.6%sensitivity and 70.8% specificity of GLS with cut-off value-24.5%(AUC=0.801,P=0.002)and with 64.3% sensitivity and 75.0% specificity of TLS-SD% with cut-off value 1.9%(AUC=0.702,P=0.040).Conclusions 1.The carriers with HCM pathogenic gene mutation present the decreased GLS and GRS and the prolonged TLS-SD% before the left ventricular is not hypertrophy with a normal two-dimensional echocardiography LVEF.These data suggest that the carriers with HCM pathogenic gene mutation present the damaged left ventricular systolic function and synchrony in the preclinical stage of HCM.2.The absolute value of GLS decreases with the increased value of LVPWD and IVSD.The value of TLS-SD% increases with the increasedvalue of LVPWD and IVSD.The absolute value of GRS decreases with the increased value of IVSD.3.The ROC curve show that the GLS has higher sensitivity and specificity,which provided quantitative evaluation indexes for early identification of HCM carriers.4.3D-STE can provide an assessment basis of echocardiography for the early stage of pathogenic gene carriers in family members of HCM patients.