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Figure 3 Development of hypertrophic cardiomyopathy (HCM) phenotype in adulthood. Echocardiograms from a man with familial HCM at age 29 years, when genotyping was initiated (A,C), and at age 35 years, after the MyBPC mutation was known (B). (A) Parasternal long-axis view at end-diastole, showing normal thickness of the ventricular septum (VS) (i.e., 11 mm) and elongated mitral valve (MV) leaflets. (B) Six years after the initial echocardiogram, the long-axis view at end-diastole shows, in addition to greatly elongated MV leaflets, hypertrophy of the anterior basal septum (arrows), which bulges prominently into the left ventricular (LV) outflow tract. (C) Apical four-chamber view from the initial echocardiogram with normal LV wall thickness, showing only a moderate degree of systolic anterior motion (arrow) produced preferentially by the distal portion of the posterior mitral leaflet (as the sole and initial clinical evidence of HCM); the anterior mitral leaflet (AmL) coapts abnormally at the base of the posterior leaflet, rather than at its tip. Calibration marks are 10 mm apart. Ao = aorta; LA = left atrium; RV = right ventricle.
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