What causes cardiomyopathy in hemochromatosis?

Updated: Apr 03, 2017
  • Author: Andrea Duchini, MD; Chief Editor: Praveen K Roy, MD, AGAF  more...
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Answer

Cardiac enlargement, with or without heart failure or conduction defects, is another mode of presentation, particularly in younger patients. Hereditary hemochromatosis C282Y/C282Y, C282Y/H63D, and C282Y/wild-type genotypes have not been associated with ischemic heart disease or myocardial infarction. [67]

Dilated cardiomyopathy is characterized by the development of heart failure and conduction disturbances, such as sick sinus syndrome. In the past, cardiac disease was the presenting manifestation in as many as 15% of patients; therefore, the absence of other manifestations of hemochromatosis should not preclude the diagnosis. Signs of fluid overload are seen with congestive heart failure.


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