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目的应用三维斑点追踪(3D-STE)技术评价家族性肥厚型心肌病(FHCM)家系中MYBPC3基因突变携带者成人左心室功能的早期改变。方法纳入MYBPC3-HCM者G+/P-者27例,对照组为G-/P-者50例。对所有研究对象行常规2D、TDI及3D-STE分析,比较两组差异。结果与G-P-组相比,G+P-组左心室GLS、GRS、e′与e′/a′显著降低,而EDT显著延长,E/e′显著升高,ROC分析显示:GLS为-21.78%诊断MYBPC3-HCM基因突变携带者的灵敏度为78%、特异度为60%(AUC=0.702)。结论 MYBPC3-HCM者中G+P-组早期已出现了左心室功能异常,3D-STE为早期评价MYBPC3-HCM携带者的左心室功能提供依据。
Objective To evaluate the early changes of left ventricular function in adults with MYBPC3 gene mutation in familial hypertrophic cardiomyopathy (FHCM) pedigree using three-dimensional speckle tracking (3D-STE) technique. Methods 27 cases of G + / P- with MYBPC3-HCM and 50 cases of G- / P- in control group were included in this study. Routine 2D, TDI, and 3D-STE analyzes were performed on all subjects and the differences between the two groups were compared. Results The left ventricular GLS, GRS, e ’and e’ / a ’in G + P group were significantly lower than those in GP-group, while the prolongation of EDT and E / e’ were significantly increased. ROC analysis showed that GLS was - The sensitivity and specificity of 21.78% of the carriers with the mutation of MYBPC3-HCM gene were 78% and 60% respectively (AUC = 0.702). CONCLUSIONS: Left ventricular dysfunction has been observed in G + P group of patients with MYBPC3-HCM in the early stage. 3D-STE is the basis for early assessment of left ventricular function in MYBPC3-HCM carriers.