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Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease with enormous diversity in phenotype expression (1). The classic description of HCM is that of hypertrophy of the basal anterior septum, systolic anterior motion (SAM) of the mitral valve (MV) resulting in dynamic left ventricular outflow tract (LVOT) obstruction at rest or with provocation in the majority of patients (Fig. 1). Since the first noninvasive description of the entity was made using M-mode echocardiography, advances in cardiac imaging in recent years have brought to light that the structural and functional abnormalities in HCM are indeed a large and heterogeneous spectrum beyond just septal hypertrophy, including the MV and subvalvular apparatus (2, 3, 4, 5, 6, 7, 8). A variety of genetic mutations are responsible for the diverse phenotypical expression and clinical course. Recognition of such morphological and functional manifestations has diagnostic, prognostic and therapeutic implications and will be reviewed here (9, 10, 11, 12, 13).

Echocardiographic profiles in hypertrophic cardiomyopathy: imaging beyond the septum and systolic anterior motion