Virchows Archiv A

, Volume 394, Issue 3, pp 195–205 | Cite as

Ultrastructure of myocardium in the hurler syndrome

Possible relation to cardiac function
  • D. Garth Perkins
  • M. Daria Haust


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.

Key words

Hurler syndrome Myocardium Histochemistry Ultrastructure Storage of gangliosides 


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  1. Adachi M, Volk BW, Schneck L, Torii J (1969) Fine structure of the myenteric plexus in various lipidoses. Arch Pathol 87:228–241Google Scholar
  2. Aleu FP, Terry RD, Zellweger H (1965) Electron microscopy of two cerebral biopsies in gargoylism. J Neuropathol Exp Neurol 24:304–317Google Scholar
  3. Belcher RW (1972) Ultrastructure of the skin in the genetic mucopolysaccharidoses. Arch Pathol 94:511–518Google Scholar
  4. Berenson GS, Geer JC (1963) Heart disease in the Hurler and Marfan syndromes. Arch Int Med 111:58–69Google Scholar
  5. 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 34:83–88Google Scholar
  6. 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 74:2869–2874Google Scholar
  7. Ferrans VJ, Hibbs RG, Burda CD (1969) The heart in Fabry's disease. A histochemical and electron microscopic study. Am J Cardiol 24:95–110Google Scholar
  8. Haust MD (1971) Arteriosclerosis. In: Brunson JG, Gall EA (eds) Concepts of disease. A textbook of human pathology. Macmillan Co., New York, pp 451–487Google Scholar
  9. Haust MD (1973) The genetic mucopolysaccharidoses (GMS). Int Rev Exp Pathol 12:251–314Google Scholar
  10. 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 9:79–86Google Scholar
  11. Haust MD, Orizaga M, Bryans AM, Frank HF (1969) The fine structure of liver in children with Hurler's syndrome. Exp Mol Pathol 10:141–161Google Scholar
  12. Lach B, Haust MD (1972) Nodular stromal lesions of choroid plexus in the Hurler disease. An ultrastructural study. Fed Proc 31:665Google Scholar
  13. Lach B, Haust MD (1975a) Glial and neuronal alterations in Hurler, Hunter and Sanfilippo diseases. Can J Neurol Sci 2:336Google Scholar
  14. 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 287–290Google Scholar
  15. Lagunoff D, Ross R, Benditt EP (1962) Histochemical and electron microscopic study in a case of Hurler's disease. Am J Pathol 41:273–286Google Scholar
  16. Legum CP, Schorr S, Berman EP (1976) The genetic mucopolysaccharidoses and mucolipidoses: review and comment. Adv Pediatr 22:305–347Google Scholar
  17. Lindsay S (1950) The cardiovascular system in gargoylism. Br Heart J 12:17–32Google Scholar
  18. McKusick VA (1972) Mucopolysaccharidosis IH. In: Heritable disorders of connective tissue. 4th edn. CV Mosby Company, St. Louis, pp 528–548Google Scholar
  19. Okada R, Rosenthal IM, Scaravelli G, Lev M (1967) A histopathologic study of the heart in gargoylism. Arch Pathol 84:20–30Google Scholar
  20. Pennock CA, Barnes IC (1976) The mucopolysaccharidoses. J Med Genet 13:169–181Google Scholar
  21. Renteria VG, Ferrans VJ (1976) Intracellular collagen fibrils in cardiac valves of patients with the Hurler syndrome. Lab Invest 34:263–272Google Scholar
  22. 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 38:487–501Google Scholar
  23. Resibois A, Tondeur M, Mockel S, Dustin P (1970) Lysosomes and storage diseases. Int Rev Exp Pathol 9:93–149Google Scholar
  24. Samuels S, Korey SR, Gonatas J, Terry RD, Weiss M (1963) Studies in Tay-Sachs disease. IV Membranous cytoplasmic bodies. J Neuropathol Exp Neurol 22:81–97Google Scholar
  25. Schochet SS Jr, McCormick WF, Halmi NS (1974) Pituitary gland in patients with Hurler syndrome. Arch Pathol 97:96–99Google Scholar
  26. 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 553–557Google Scholar
  27. Terry RD, Korey SR (1960) Membranous cytoplasmic granules in infantile amaurotic idiocy. Nature 188:1000–1002Google Scholar
  28. 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 82:462–473Google Scholar

Copyright information

© Springer-Verlag 1982

Authors and Affiliations

  • D. Garth Perkins
    • 1
    • 2
  • M. Daria Haust
    • 1
    • 2
  1. 1.Departments of Pathology and PaediatricsThe University of Western OntarioCanada
  2. 2.Children's Psychiatric Research Institute, and University HospitalLondonCanada

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