Cardiac involvement in hemochromatosis

Cardiol Rev. 2014 Mar-Apr;22(2):56-68. doi: 10.1097/CRD.0b013e3182a67805.


Cardiac hemochromatosis or primary iron-overload cardiomyopathy is an important and potentially preventable cause of heart failure. This is initially characterized by diastolic dysfunction and arrhythmias and in later stages by dilated cardiomyopathy. Diagnosis of iron overload is established by elevated transferrin saturation (>55%) and elevated serum ferritin (>300 ng/mL). Genetic testing for mutations in the HFE (high iron) gene and other proteins, such as hemojuvelin, transferrin receptor, and ferroportin, should be performed if secondary causes of iron overload are ruled out. Patients should undergo comprehensive 2D and Doppler echocardiography to evaluate their systolic and diastolic function. Newer modalities like strain imaging and speckle-tracking echocardiography hold promise for earlier detection of cardiac involvement. Cardiac magnetic resonance imaging with measurement of T2* relaxation times can help quantify myocardial iron overload. In addition to its value in diagnosis of cardiac iron overload, response to iron reduction therapy can be assessed by serial imaging. Therapeutic phlebotomy and iron chelation are the cornerstones of therapy. The average survival is less than a year in untreated patients with severe cardiac impairment. However, if treated early and aggressively, the survival rate approaches that of the regular heart failure population.

Publication types

  • Review

MeSH terms

  • Biopsy
  • Heart / physiopathology*
  • Heart Failure / etiology*
  • Heart Failure / mortality
  • Heart Failure / physiopathology*
  • Hemochromatosis / complications*
  • Hemochromatosis / physiopathology*
  • Hemochromatosis / therapy
  • Humans
  • Iron / metabolism
  • Iron Chelating Agents / therapeutic use
  • Liver / pathology
  • Phlebotomy
  • Survival Rate
  • Treatment Outcome


  • Iron Chelating Agents
  • Iron