Ultrastructure of myocardium in the hurler syndrome

Summary Cardiac tissues obtained at post mortem examination of eight patients with the Hurler syndrome, who ranged in age from 5 to 23 years, were examined by histochemical methods and electron microscopy. Extensive myocardiocytic vacuolization and increased interstitial fibrous tissue were noted by light microscopy in all hearts. The cytoplasmic (perinuclear) vacuoles contained Luxol-fast-blue-positive substance. At the ultrastructural level, abnormal cytoplasmic organelles were present within the myocardiocytes in all patients. These organelles were of three types: zebra bodies (ZB), membranous cytoplasmic bodies (MCB) and granulomembranous bodies (GMB). As ZB and MCB are believed to represent the morphological counterpart of accumulated gangliosides, these substances rather than glycosaminoglycans appear to be stored within myocardiocytes of patients with the Hurler syndrome. The accumulation of gangliosides and the consequent damage to the myocardial substratum probably contributes to the clinically evident cardiac disease, so often observed in the patients with this disorder.Supported in part by grants-in-aid T.3-11 and 3-3 from the Ontario Heart Foundation, No. 766 from the Ontario Mental Health Foundation, Toronto, and a Special Research Fund, University Hospital, London, Ontario, CanadaPresented in part at the Annual Meeting of the Canadian Association of Pathologists, Quebec City, Quebec, Canada, June 16–20, 1979Recipient of a Medical Research Council of Canada Fellowship, 1978–1980