Echocardiography in Fabry disease with left ventricular hypertrophy

Two-dimensional echocardiography in four-chamber apical view and left ventricular endomyocardial biopsy from a patient with Fabry disease cardiomyopathy with left ventricular hypertrophy (panels A and C) and from a patient with left ventricular hypertrophy due to hypertrophic cardiomyopathy (panels B and D). Panel A shows two major findings: a thickened hyperechogenic layer, which represents intracellular glycosphingolipid deposition in the endocardium (End) and subendocardial myocardium (SM) (panel C); and a hypoechogenic middle layer (ML) of the myocardium that appears partially spared. This echocardiographic pattern is absent in hypertrophic cardiomyopathy (panel B), despite a similar thickening of the endocardium (panel D).