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The cardiomyopathy of Wilson's disease. Myocardial alterations in nine cases
Insights
Wilson's disease can cause significant heart problems, including cardiac hypertrophy and fibrosis. Sudden cardiac death may occur, highlighting the need for further cardiac function studies in affected patients.
Area of Science:
- Cardiology
- Hepatology
- Pathology
Background:
- Cardiac changes are recognized in hemochromatosis, but less is known about cardiac involvement in Wilson's disease.
- Wilson's disease is a genetic disorder causing copper accumulation in organs, including the liver and brain.
Purpose of the Study:
- To investigate the extent of myocardial degeneration in Wilson's disease patients.
- To characterize cardiac morphological abnormalities in Wilson's disease.
Main Methods:
- Autopsy findings from 9 Wilson's disease cases were reviewed.
- Findings were compared to 3 control cases with similar age and liver disease without known cardiac issues.
Main Results:
- Cardiac hypertrophy observed in 5 of 9 Wilson's disease cases.
- All cases showed interstitial/replacement fibrosis, small vessel sclerosis, and inflammation.
- One case had AV nodal degeneration; another had severe coronary atherosclerosis.
Conclusions:
- Wilson's disease is associated with definite cardiac abnormalities, suggesting a Wilson's disease cardiomyopathy.
- Non-specific myocardial changes and sudden deaths indicate a need for prospective cardiac function studies.
Abstract:
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.