Hostname: page-component-586b7cd67f-r5fsc Total loading time: 0 Render date: 2024-11-24T23:22:48.875Z Has data issue: false hasContentIssue false

The Cardiomyopathy of Friedreich's Ataxia Morphological Observations in 3 Cases

Published online by Cambridge University Press:  18 September 2015

J.B. Lamarche
Affiliation:
Centre Hospitalier Universitaire de Sherbrooke
M. Côté
Affiliation:
Centre Hospitalier Universitaire de Sherbrooke
B. Lemieux
Affiliation:
Centre Hospitalier Universitaire de Sherbrooke
Rights & Permissions [Opens in a new window]

Summary:

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

In the light of the recent finding of deposits of calcium salts and iron in myocardial cells in one case of Friedreich's ataxia, we have made a detailed morphological study of 3 new cases of this cardiomyopathy. Calcium deposits were not found in the muscle fibers but lipofuscin granules and deposits of iron were observed in our 3 cases. In addition to the usual findings of interstitial fibrosis, hypertrophy and degeneration of myocardial fibers, foci of segmental active muscle necrosis were constantly present. There is a possibility that Friedreich's ataxia could be a neurocardiac degenerative disease with a membrane defect which could be related to defective metabolism of vitamin E or other micronutrienls.

Type
Quebec Cooperative Study of Friedreich's Ataxia
Copyright
Copyright © Canadian Neurological Sciences Federation 1980

References

REFERENCES

Adams, R.A., Denny-Brown, D. and Pearson, CM. (1962): Diseases of muscle. A study in Pathology. Harper and Row, New York, pp. 268282.Google Scholar
Azari, J., Reisine, T., Barbeau, A., Yamamura, H.I. and Huxtable, R.: The Syrian Goden Hamster: A model for the Cardiomyopathy of Friedreich’s ataxia (1979). Can. J. Neurol. Sci. 6: 223226.CrossRefGoogle Scholar
Bove, K.E.: Myocardial hypertrophy and enlargement (1974). In: The Heart, (Edwards, J.E., Lev, M. and Abeli, M.R., eds) Williams and Wilkins Co., Baltimore, International Academy of Pathology monograph no 12: pp. 3055.Google Scholar
Buja, L.M. and Roberts, W.C. (1971): Iron in the heart. Etiology and clinical significance. Amer. J. Med., 51: 209221.CrossRefGoogle ScholarPubMed
Cassi, P.I., Hauswirth, J.W. and Nair, P.P. (1972): Biosynthesis of heme in vitamin E deficiency. Ann. N.Y. Acad. Sci. 203: 93102.CrossRefGoogle Scholar
Davignon, J., Huang, Y.S., Wolf, J.P. and Barbeau, A. (1979): Fatty acid profile of major lipid classes in plasma lipoproteins of patients with Friedreich’s ataxia. Demonstration of a low linoleic acid content most evident in the cholesteryl-ester fraction. Can. J. Neurol. Sci., 6: 275283.CrossRefGoogle ScholarPubMed
Gore, I and Arons, W., (1949): Calcification of the myocardium. A pathologic study of thirteen cases. Arch. Path., 48: 112.Google Scholar
Heggtveit, H.A. and Nadkarni, B.B. (1971): Ultrastructural pathology of the myocardium. Meth. Achievm. exp. Path., 5: 474517, ed. by Bajusz, E. Boston, Mass., and Jasmin, G. Montreal (Karger, Basel).Google Scholar
Hewer, R.L., (1969): The heart in Friedreich’s ataxia. Br. Heart J., 31: 514.CrossRefGoogle ScholarPubMed
Horwitt, M.K., Harvey, C.C., Dahm, CH. and Searcy, M.T., (1972): Relationship between tocopherol and serum lipid levels for determination of nutritional adequacy. Ann. N.Y. Acad. Sci., 203: 223236.CrossRefGoogle ScholarPubMed
Kayden, H.J. and Bjornson, L., (1972): The dynamics of vitamin E transport in the human erythrocyte. Ann. N.Y. Acad. Sci., 203: 127140.CrossRefGoogle ScholarPubMed
Koobs, D.H., Schultz, R.L. and Jutzy, R.V., (1978): The origin of lipofuscin and possible consequences to the myocardium. Arch. Pathol. Lab. Med., 102: 6668.Google ScholarPubMed
Malamud, NNelson, M.M. and Evans, H.M., (1949): The effect of chronic vitamin E deficiency on the nervous system in the rat. Ann. N.Y. Acad. Sci., 52: 135138.CrossRefGoogle Scholar
Malkoff, D.B. and Strehler, B.L., (1963): The ultrastructure of isolated and in situ human cardiac age pigment. J. Cell. Biol., 16: 611616.CrossRefGoogle ScholarPubMed
Mason, K.W. and Emmel, A.F. (1945): Vitamin E and muscle pigment in the rat. Anat. Ree. 92: 3360.CrossRefGoogle Scholar
Morales, A.R., (1974): Cardiomyopathies: Congenital and acquired. In: The heart, (Edwards, J.E., Lev, M. and Abel, M.R., eds) Williams and Wilkins Co., Baltimore, International Academy of Pathology Monograph no 15: pp. 211231.Google Scholar
Morgan, R.O., Naglie, G., Horobin, D.F. and Barbeau, A., (1979): Erythrocyte protoporphyrin levels in patients with Friedreich’s and other ataxias. Can. J. Neurol. Sci., 6: 227232.CrossRefGoogle ScholarPubMed
Nishioka, N., Takahata, N. and Iizuka, R., (1968): Histochemical studies on the lipo-pigments in the nerve cells. A comparison with lipofuscin and ceroid pigment. Acta Neuropath., 11: 174181.CrossRefGoogle ScholarPubMed
Nissen, A.W. and Berte, J.B., (1964): Cardiac arrhythmias in sarcoidosis. Arch. Int. Med., 113: 167174.CrossRefGoogle ScholarPubMed
Pearce, G.W. and Walton, J.N., (1962): Progressive muscular dystrophy: the histo-pathological changes in skeletal muscle obtained by biopsy. J. Path. Bact., 83: 535550.CrossRefGoogle Scholar
Porta, EA. and Hartroft, W.S., (1969): Lipid pigments in relation to aging and dietary factors (lipofuscins) In: Pigments in Pathology (Wolman, M. ed.) Academic Press, New York, pp. 191235.Google Scholar
Reichenbach, D.D. and Benditt, E.P., (1969): Myofibrillar degeneration: a common form of cardiac muscle injury. Ann. N.Y. Acad. Sci., 156: 164176.CrossRefGoogle ScholarPubMed
Roberts, W.C, Ferrans, V.J. and Buja, L.M., (1974): Pathologic aspects of the idiopathic cardiomyopathies. Comparative pathology of the heart. Adv. Cardiol., 13: 349367 (Karger, Basel).CrossRefGoogle Scholar
Russell, D.S., (1946): Myocarditis in Friedreich’s ataxia. J. Path. Bact., 58: 739748.CrossRefGoogle ScholarPubMed
Sanchez-Casis, G., Cote, M. and Bar-BEAU, N., (1976): Pathology of the heart in Friedreich’s ataxia: Review of the literature and report of one case. Can. J. Neurol. Sci., 3: 349354.CrossRefGoogle ScholarPubMed
Sandritter, W. and Scomazzoni, G., (1964): Deoxyribonucleic acid content (Feulgen photometry) and dry weight (interference microscopy) of normal and hypertrophic heart muscle fibres. Nature, 202: 100101.CrossRefGoogle Scholar
Smith, E.R., Sangalang, V.E., Heffernan, L.P., Welch, J.P. and Flemington, C.S., (1977): Hypertrophic cardiomyopathy: The heart disease of Friedreich’s ataxia. Am. Heart J., 94: 428434.CrossRefGoogle ScholarPubMed
Strehler, B.L., Mark, D.D., Mildvan, A.S. and Gee, M.V., (1959): Rate and magnitude of age pigment accumulation in the human myocardium. J. Geront., 14: 430439.CrossRefGoogle ScholarPubMed
Walton, J.N. and Hudgson, P., (1977): Inflammatory myopathies and related diseases. In: Scientific Approaches to Clinical Neurology, Vol. 2 (Goldensohn, E.S. and Appel, S.H., eds), Lea and Febiger, Philadelphia, pp. 17661779.Google Scholar