Echocardiographic mitral valve deformity in the mucopolysaccharidoses

Previously reported echocardiographic abnormalities in patients with mucopolysaccaridosis and the Hunter-Hurler phenotype have stressed the similarity to calcific mitral stenosis despite the fact that mitral stenosis is a relatively uncommon manifestation of this disease. The purpose of this report is to describe the echocardiographic abnormalities in five patients with the Hunter-Hurler phenotype who had no clinical evidence of mitral stenosis. All had abnormal thickening of the mitral valve leaflets and one had echoes suggestive of calcification of the mitral annulus. All patients had normal electrocardiograms and roentgenographic cardiothoracic ratios, and two patients had no cardiac murmur. The high frequency of valvular deformity in this disease and the sensitivity of echocardiography in detecting these deformities suggest that echocardiography should be performed in the evaluation of patients with mucopolysaccharidosis. When echocardiographic evidence of valvular deformity is obtained, consideration should be given to bacterial endocarditis prophylaxis.