Hemochromatosis (cardiac manifestations)

Cardiac involvement in hemochromatosis typically occurs with primary hemochromatosis, as the organ is usually spared in the secondary form of the disease.

For a general discussion, and for links to other system specific manifestations, please refer to the article on hemochromatosis.


Cardiac involvement occurs in approximately 15-20% of the patients with hemochromatosis.

Clinical presentation

Manifestations depend on the extent of iron deposition and include:

  • breathlessness
  • pedal edema
  • palpitations
  • features of congestive heart failure


Hemochromatosis can result in an iron overload cardiomyopathy.

Radiographic features 


Transthoracic echocardiography is a useful screening tool for the presence of cardiac manifestations in patients with known hemochromatosis. Findings are, however, nonspecific, and may be loosely divided into early and late findings :

  • early findings
  • advanced findings
    • the "dilated" phenotype
    • the "restrictive" phenotype
      • grade III diastolic dysfunction
        • formerly referred to as restrictive filling
        • mitral filling velocity profile demonstrates an E/A ratio > 2 with a deceleration time (DT) < 160 ms
      • severe left atrial enlargement
      • right ventricular dysfunction
        • elevated right ventricular systolic pressure (RVSP)
        • elevated systolic pulmonary artery pressure (sPAP)
      • normal to elevated left ventricular ejection fraction

Decreased peak velocities of the left ventricular lateral wall, as measured by speckle tracking echocardiography, may occur before the aforementioned early findings on B-mode/dopper echocardiography .


The role of cardiac MRI (CMR) is to identify and quantify the amount of iron deposition. Paramagnetic ferritin and hemosiderin lead to altered relaxation times of adjacent hydrogen nuclei. T2* imaging is highly sensitive in detecting the amount of iron deposition. T2* CMR is also a recent advancement in the evaluation of cardiac iron overload.