title: Cardiac structural involvement in mucopolysaccharidoses.
abstract: Mucopolysaccharidoses (MPS) are lysosomal storage disorders due to impaired glycosaminoglycan degradation. Cardiac involvement is present in most patients with MPS although its clinical impact is still undetermined. Cardiovascular abnormalities were evaluated in 39 patients with MPS aged 4-22 years. Valvular lesions and different forms of cardiac involvement were detected. The most common lesion was thickening of the mitral valve with regurgitation or stenosis, regardless of the MPS type. Mitral valve thickening was observed in 23 patients, aortic valve thickening in 11 patients and congestive heart failure in only 1 patient with MPS III. The most severe changes were registered for MPS types I and II. Complete cardiological investigation should be routinely warranted in every patient inflicted with MPS.
authors.affiliation: Department of Pediatrics, Università Cattolica Sacro Cuore, Rome, Italy. iclpe@rm.unicatt.it
authors.forename: Donato
authors.initials: D
authors.lastname: Rigante
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Segni
mesh_terms: D000293:Adolescent; D000328:Adult; D001021:Aortic Valve / Q000002:abnormalities / Q000000981:diagnostic imaging; D018376:Cardiovascular Abnormalities / Q000150:complications* / Q000175:diagnosis; D002648:Child; D002669:Child Welfare; D002675:Child, Preschool; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D006349:Heart Valve Diseases / Q000150:complications / Q000175:diagnosis; D006352:Heart Ventricles / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D007558:Italy; D008297:Male; D008943:Mitral Valve / Q000002:abnormalities / Q000000981:diagnostic imaging; D009083:Mucopolysaccharidoses / Q000150:complications* / Q000175:diagnosis; D011446:Prospective Studies; D012720:Severity of Illness Index