Echocardiographic findings in some metabolic storage diseases

This study was planned to determine the presence and extent of cardiac involvement in metabolic storage diseases, including types I and II glycogenoses, Gaucher and Neimann-Pick diseases, galactosialidosis and mucopolysaccharidosis. M-mode, 2-dimensional and Doppler echocardiographic studies were used for the determination of left ventricular wall thickness, systolic function, anatomic derangement, valvular dysfunction and left ventricular diastolic function in the patient and control groups. In 19.35% of the cases valvular involvement, and in 59.26% thickening of the left ventricular wall due to metabolic storage, was found. Left ventricular systolic function was in the normal range. The diastolic mitral flow patterns of the cases showed obstructive type changes. It can be concluded that in this study, besides previously described cardiovascular changes, some new findings have been detected by means of echocardiography in patients with metabolic storage diseases.