Assessment of left ventricular dysfunction of sarcomere mutation carriers in hypertrophic cardiomyopathy by three-dimensional speckle tracking imaging combined with conventional echocardiography

Objective To explore the value of three-dimensional speckle tracking imaging (3D-STI) and conventional echocardiography in evaluating left ventricular function characteristics of sarcomere mutation carriers in hypertrophic cardiomyopathy. Methods Totally 91 subjects with sarcomere mutations in family HCM but without left ventricular hypertrophy (G+ /P- group), and 100 normal family members with gender and age matched as the control group (G-/P- group) were enrolled from the center of hypertrophic cardiomyopathy of Xijing Hospital affiliated to the Air Force Military Medical University from February 2013 to April 2017. They all received the comprehensive evaluation of 3D-STI and conventional echocardiography. The ultrasonic paramaters between the two groups were compared. And the diagnostic performance of these paramaters with sarcomere mutations was evaluated. Results Compared with the G-/P- group, the G+ /P-group had larger left atrial diameter (LAD), longer left ventricular isovolumic relaxation time (IVRT), reduced mitral annular systolic velocity (e′), elevated E/e′ ratio, as well as impaired left ventricular global longitudinal and radial strain(GLS and GRS) (P<0.05). Moreover, the GLS≤19.9%(AUC 0.861, sensitivity 61.4%, specificity 98.5%) and IVRT≥75.5 ms(AUC 0.762, sensitivity 61.4%, specificity 72.6%) showed the best diagnostic performance with sarcomere mutations (P<0.05). Conclusions In HCM family members, the sarcomere mutations carriers without left ventricular hypertrophy exhibit impaired left ventricular diastolic function, reduced longitudinal and radial systolic function.Moreover, the GLS and IVRT show the best diagnostic performance for those with sarcomere mutations. Key words: Three-dimensional speckle tracking imaging; Hypertrophic cardiomyopathy; Sarcomere mutation carriers; Ventricular function, left