Early identification of gene mutation carriers in familiar hypertrophic cardiomyopathy with three-dimensional speckle tracking echocardiography

Objective To explore the value of three dimensional speckle tracking echocardiography (3D-STE) in evaluating the left ventricular systolic function in familiar hypertrophic cardiomyopathy (HCM) mutation carriers. Methods Eighty-one subjects were divided as: HCM mutation carriers but without left ventricular hypertrophy (G+ /P-) (n=41) and normal controls (n=40). Normal control group including healthy volunteers and healthy family members in whom sarcomere gene mutations were excluded by genetic analysis. They also prospectively underwent 3D-STE to complete strain analysis of the left ventricle. The variables of 3D global systolic longitudinal strain(3D-GLS), 3D global systolic radial strain (3D-GRS) and 3D global circumferential strain(3D-GCS) in two groups were compared. Results Compared with normal controls, the G+ /P- group showed significantly higher left atrial volume index (P 0.05). 3D-GLS determined after ROC analysis identified mutation carriers with 70.7% sensitivity and 96% specificity, 3D-GRS with 55.0% sensitivity and 65.9% specificity. Conclusions The systolic function of left ventricular has changed in familiar hypertrophic cardiomyopathy mutation carriers, 3D-STE could provide quantitative information for gene mutation carriers in early identification. Key words: Three dimensional speckle tracking imaging; Cardiomyopathy, hypertrophic; Gene mutation; Carriers; Ventricular function, left