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.
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References
Adachi M, Volk BW, Schneck L, Torii J (1969) Fine structure of the myenteric plexus in various lipidoses. Arch Pathol 87:228–241
Aleu FP, Terry RD, Zellweger H (1965) Electron microscopy of two cerebral biopsies in gargoylism. J Neuropathol Exp Neurol 24:304–317
Belcher RW (1972) Ultrastructure of the skin in the genetic mucopolysaccharidoses. Arch Pathol 94:511–518
Berenson GS, Geer JC (1963) Heart disease in the Hurler and Marfan syndromes. Arch Int Med 111:58–69
Blieden LC, Desnick RJ, Carter JB, Krivit W, Moller JH, Sharp HL (1974) Cardiac involvement in Sandhoff's disease. Inborn error of glycosphingolipid metabolism. Am J Cardiol 34:83–88
Escourolle R, Berger B, Poirier J (1966) Biopsie cérébrale d'un cas de mucopolysaccharidose H.S. (Oligophrénie polydystrophique ou maladie de Sanfilippo). Etude histochimique et ultrastructurale. Presse Med 74:2869–2874
Ferrans VJ, Hibbs RG, Burda CD (1969) The heart in Fabry's disease. A histochemical and electron microscopic study. Am J Cardiol 24:95–110
Haust MD (1971) Arteriosclerosis. In: Brunson JG, Gall EA (eds) Concepts of disease. A textbook of human pathology. Macmillan Co., New York, pp 451–487
Haust MD (1973) The genetic mucopolysaccharidoses (GMS). Int Rev Exp Pathol 12:251–314
Haust MD, Landing BH (1961) Histochemical studies in Hurler's disease: a new method for localization of acid mucopolysaccharide, and an analysis of lead acetate “fixation”. J Histochem Cytochem 9:79–86
Haust MD, Orizaga M, Bryans AM, Frank HF (1969) The fine structure of liver in children with Hurler's syndrome. Exp Mol Pathol 10:141–161
Lach B, Haust MD (1972) Nodular stromal lesions of choroid plexus in the Hurler disease. An ultrastructural study. Fed Proc 31:665
Lach B, Haust MD (1975a) Glial and neuronal alterations in Hurler, Hunter and Sanfilippo diseases. Can J Neurol Sci 2:336
Lach B, Haust MD (1975b) Evolution of the intraneuronal storage material in Sanfilippo disease. VII International Congress of Neuropathology, Budapest, Hungary, September 1974. Excerpta Medica, Amsterdam, pp 287–290
Lagunoff D, Ross R, Benditt EP (1962) Histochemical and electron microscopic study in a case of Hurler's disease. Am J Pathol 41:273–286
Legum CP, Schorr S, Berman EP (1976) The genetic mucopolysaccharidoses and mucolipidoses: review and comment. Adv Pediatr 22:305–347
Lindsay S (1950) The cardiovascular system in gargoylism. Br Heart J 12:17–32
McKusick VA (1972) Mucopolysaccharidosis IH. In: Heritable disorders of connective tissue. 4th edn. CV Mosby Company, St. Louis, pp 528–548
Okada R, Rosenthal IM, Scaravelli G, Lev M (1967) A histopathologic study of the heart in gargoylism. Arch Pathol 84:20–30
Pennock CA, Barnes IC (1976) The mucopolysaccharidoses. J Med Genet 13:169–181
Renteria VG, Ferrans VJ (1976) Intracellular collagen fibrils in cardiac valves of patients with the Hurler syndrome. Lab Invest 34:263–272
Renteria VG, Ferrans VJ, Roberts WC (1976) The heart in the Hurler syndrome. Gross, histologic, and ultrastructural observations in five necropsy cases. Am J Cardiol 38:487–501
Resibois A, Tondeur M, Mockel S, Dustin P (1970) Lysosomes and storage diseases. Int Rev Exp Pathol 9:93–149
Samuels S, Korey SR, Gonatas J, Terry RD, Weiss M (1963) Studies in Tay-Sachs disease. IV Membranous cytoplasmic bodies. J Neuropathol Exp Neurol 22:81–97
Schochet SS Jr, McCormick WF, Halmi NS (1974) Pituitary gland in patients with Hurler syndrome. Arch Pathol 97:96–99
Sly WS (1980) The metabolic defect in the mucopolysaccharidoses. In: Bondy PK, Rosenberg LE (eds) Metabolic control and disease, 8th edn. WB Saunders Company, Philadelphia, pp 553–557
Terry RD, Korey SR (1960) Membranous cytoplasmic granules in infantile amaurotic idiocy. Nature 188:1000–1002
Wallace BJ, Kaplan D, Adachi M, Schneck L, Volk BW (1966) Mucopolysaccharidosis type III. Morphologic and biochemical studies of two siblings with Sanfilippo syndrome. Arch Pathol 82:462–473
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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, Canada
Recipient of a Medical Research Council of Canada Fellowship, 1978–1980
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Perkins, D.G., Haust, M.D. Ultrastructure of myocardium in the hurler syndrome. Virchows Arch. A Path. Anat. and Histol. 394, 195–205 (1982). https://doi.org/10.1007/BF00430665
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DOI: https://doi.org/10.1007/BF00430665