Purpose: Previous studies suggest that anterior mitral valve leaflet (AMVL) elongation is a primary phenotypic feature in hypertrophic cardiomyopathy (HCM). Our aim was to assess AMVL length in individuals with HCM gene mutations and in healthy controls and to identify predictors of the development of HCM during follow-up. Methods: A total of 133 HCM mutation carriers and 135 controls underwent cardiac examination including electro- and echocardiography. AMVL length was measured in the parasternal long axis and apical three chamber view during diastole. Univariate and multivariable cox proportional hazard regression analyses were performed to identify predictors of HCM. Results: There were no significant differences between HCM mutation carriers and controls regarding age and sex. In the parasternal long axis view, AMVL length was similar in mutation carriers and controls (24 ± 4 vs 24 ± 4 mm, p = 0.8). In the apical three chamber view, AMVL were shorter in mutation carriers (29 ± 4 vs 30 ± 4 mm, p = 0.02). When averaged for both views, AMVL length was similar in mutation carriers and controls (27 ± 3 vs 27 ± 3 mm, p = 0.2). During 5.8 ± 3.0 years follow-up, 13 (14%) HCM mutation carriers developed HCM. Pathological Q wave (hazard ratio 9.89, p = 0.004), E/e′ ratio (hazard ratio 2.52, p = 0.001), and maximal wall thickness (hazard ratio 2.15, p = 0.001) were independent predictors of HCM. AMVL length was not predictive of the development of HCM. Conclusions: AMVL length is similar in HCM mutation carriers and controls. AMVL length is not predictive of the development of HCM, in contrast to pathological Q wave, E/e′ ratio, and maximal wall thickness.

Additional Metadata
Keywords Echocardiography, Genetics, Hypertrophic cardiomyopathy, Mitral valve, Screening
Persistent URL dx.doi.org/10.1007/s40477-018-0302-9, hdl.handle.net/1765/110000
Journal Journal of Ultrasound
Van Velzen, H, Schinkel, A.F.L, Menting, M.E, van den Bosch, A.E, & Michels, M. (2018). Prognostic significance of anterior mitral valve leaflet length in individuals with a hypertrophic cardiomyopathy gene mutation without hypertrophic changes. Journal of Ultrasound, 21(3), 217–224. doi:10.1007/s40477-018-0302-9