The early diagnosis of MYH7 gene mutation carriers of hypertrophic cardiomyopathy using multi-parameter analysis model by conventional two-dimensional echocardiography and three-dimensional speckle tracking imaging

Abstract

Objective To create multi-parameter analysis model by conventional two-dimensional echorcardiography(2DE) and three-dimensional speckle tracking imaging(3D-STI) in order to improve the early diagnosis in MYH7G+ P- mutation carriers of familiar hypertrophic cardiomyopathy(HCM). Methods Twenty-eight MYH7 mutation carriers without left ventricular hypertrophy (MYH7G+ P-) were enrolled as the research group, while 27 MYBPC3 mutation carriers without left ventricular hypertrophy (MYBPC3G+ P-) were selected as the control group. The clinical data, conventional 2DE and tissue Doppler imaging(TDI) parameters of the two groups were acquired, including the maximum of the thickness of interventricular septum(IVS) and left ventricular posterior ventricular wall thickness(LVPWT) in end of diastole, mitral flow E and A velocities, E peak deceleration time(EDT), atrioventricular filling time, mitral annulus velocity of interventricular septum IVS-e′ and lateral wall L-e′, interventricular septum IVS-a′ and lateral wall L-a′ peak in diastole, calculate mean value e′ and a′, and calculate E/ e′, E/A, left atrial volume index(LAVI), left ventricular mass index(LVMI), left ventricular ejection fraction(LVEF) and isovolumic relaxation time(IVRT), isovolumic contraction time(IVCT). The global longitudinal peak strain(GLS), global radial peak strain(GRS), global circumferential peak strain(GCS) and global area peak strain(GAS) were acquired by 3D-STI. All parameters were compared between research group and control group. Results Compared with the control group, research group significantly increased in LAVI, maximum IVS and LVPWT, LVMI and GAS(P 0.05). For single parameter, the area under ROC curve(AUC) were successively LVPWT>LAVI>IVS>LVMI>GAS(0.772, 0.738, 0.733, 0.719, 0.714, respectively). AUC of multi-parameters was 0.912, the sensitivity and specificity were 85.2% and 96.3%, respectively. Conclusions Multi-parameter analysis model by conventional 2DE and 3D-STI can significantly improve the recognition efficiency of early diagnosis MYH7G+ P- of familiar HCM. With further, maximum LVPWT is an independent predictor of distinction MYH7G+ P- and MYBPC3G+ P-. Key words: Echocardiography; Cardiomyopathy, hypertrophic; MYBPC3; MYH7; Speckle tacking imaging, three-dimensional