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The cardiomyopathy of Wilson's disease

Myocardial alterations in nine cases

Summary

Though myocardial alterations are well recognized in haemochromatosis, little attention has been paid to the cardiac changes in Wilson's disease. To define the extent of myocardial degeneration in newly diagnosed or chronically treated Wilson's disease, we reviewed the autopsy findings in 9 cases with this condition. We compared our observations with those in 3 control cases, selected for comparable age and with liver disease having no known association with cardiac degeneration. Our results revealed cardiac hypertrophy in 5 out of 9 cases of Wilson's disease. There was evidence of interstitial and replacement fibrosis, intramyocardial small vessel sclerosis and focal inflammatory cell inflammation to a variable degree in all cases. One case had AV nodal degeneration, and a 15 year old boy had severe atherosclerosis of the left main coronary artery. Two patients died suddenly, presumably secondary to an arrhythmia; one of these patients had the most marked myocardial alterations. We could not correlate these changes specifically with the tissue levels of copper, treatment with D-penicillamine, or the presence of cirrhosis. We conclude that there are definite morphological abnormalities in the hearts of patients with Wilson's disease consistent with a cardiomyopathy. Though the myocardial changes were non-specific, the fact that 2 patients died suddenly, suggests the need for a prospective study of cardiac function in these patients in the future.

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Supported in part by NIH Grants HL 21756 and NIAMD 17702, and The Foundation for the Study of Wilson's Disease, Inc.

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Factor, S.M., Cho, S., Sternlieb, I. et al. The cardiomyopathy of Wilson's disease. Virchows Arch. A Path. Anat. and Histol. 397, 301–311 (1982). https://doi.org/10.1007/BF00496571

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Key words

  • Wilson's disease
  • Cardiomyopathy
  • Copper toxicity
  • Myocardial degeneration