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.
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.
- 1. Murphy CJ, Oudit GY. Iron-overload cardiomyopathy: pathophysiology, diagnosis, and treatment. J. Card. Fail. 2010;16 (11): 888-900. doi:10.1016/j.cardfail.2010.05.009 - Pubmed citation
- 2. Kremastinos DT, Farmakis D. Iron overload cardiomyopathy in clinical practice. Circulation. 2011;124 (20): 2253-63. doi:10.1161/CIRCULATIONAHA.111.050773 - Pubmed citation
- 3. Mahon NG, Coonar AS, Jeffery S et-al. Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy. Heart. 2000;84 (5): 541-7. Free text at pubmed - Pubmed citation