[Echocardiographic findings in 3 cases of mucopolysaccharidosis]

Mucopolysaccharidosis (MPS) has been shown to cause cardiac involvements. However, echocardiographic features of MPS were not well understood. We examined echocardiographic findings in three adult patients with MPS. The diagnosis was confirmed by measuring urinary acid mucopolysaccharide and alpha-L-iduronidase activity in the white blood cell and skin fibroblast. The age ranged from 29 to 54 years. Two patients were Scheie syndrome (MPS I-S) and one was suspected to be Maroteaux-Lamy syndrome (MPS VI). All patients had a systolic heart murmur suggestive of aortic stenosis, and one had an additional apical systolic murmur consistent with mitral regurgitation. The echocardiogram revealed the following findings; 1) an abnormal thickening of all aortic leaflets with reduced valve opening in all cases, 2) diffuse and marked thickening of the mitral leaflets, chordae and papillary muscles, no upward motion of the posterior mitral leaflet in spite of reduced E-F slope (13, 23 and 17 mm/sec, respectively), and slight narrowing of the mitral orifice, and 3) a slightly thickened and dilated left ventricle (IVS: 11, PW: 12, EDd: 58, and ESd 44 mm) in the case with Maroteaux-Lamy syndrome. The last finding was probably due to deposition of mucopolysaccharide in the myocardium, because the coronary arteriogram in this case did not demonstrate any significant lesions. The echocardiographic characteristics in our adult MPS cases were similar to those reported in infant or juvenile cases with Hurler syndrome (MPS 1-H) or Hunter syndrome (MPS II). However, our Maroteaux-Lamy patient may be the first case, in which myocardial involvement by mucopolysaccharide was suggested echocardiographically.