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 g lycogenoses, Gaucher and Neimann-Pick diseases, galactosialidosis and mucopolysaccharidosis. M-mode, 2-dimensional and Doppler echocardiogra phic studies were used for the determination of left ventricular wall thickness, systolic function, anatomic derangement, valvular dysfuncti on and left ventricular diastolic function in the patient and control groups. In 19.35% of the cases valvular involvement, and in 59.26% thi ckening of the left ventricular wall due to metabolic storage, was fou nd. Left ventricular systolic function was in the normal range. The di astolic mitral flow patterns of the cases showed obstructive type chan ges. It can be concluded that in this study, besides previously descri bed cardiovascular changes, some new findings have been detected by me ans of echocardiography in patients with metabolic storage diseases.