Cardiomyopathy in haemochromatosis

Cardiomyopathy in haemochromatosis refers to an iron overload cardiomyopathy which can occur in those with the condition.

In primary haemochromatosis leading to iron overload, the cardiomyopathy has classically been categorised as an infiltrative cause of restrictive cardiomyopathy. While in those with secondary haemochromatosis may lead to a dilated cardiomyopathy with severe diastolic LV dysfunction in the early stages of the disease, before LVEF is affected 2.

Practical points

The H63D mutation (common mutation of the haemochromatosis associated gene) has been shown to be significantly increased in patients with idiopathic dilated cardiomyopathy although these patients to do not get classified as a cardiomyopathy in haemochromatosis unless there is an iron overload cardiomyopathy 3.

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Article information

rID: 32512
System: Cardiac
Synonyms or Alternate Spellings:
  • Haemochromatosis cardiomyopathy

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