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.
Manifestations depend on the extent of iron deposition and include:
- pedal edema
- features of congestive heart failure
Hemochromatosis can result in an iron overload cardiomyopathy.
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 7:
- 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
- grade III diastolic dysfunction
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 6.
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.
- 1.Cheong B, Huber S, Muthupillai R et-al. Evaluation of myocardial iron overload by T2* cardiovascular magnetic resonance imaging. Tex Heart Inst J. 2006;32 (3): 448-9. Free text at pubmed - Pubmed citation
- 2. McCarthy GM, Crowe J, McCarthy CJ et-al. Hereditary hemochromatosis: a common, often unrecognized, genetic disease. Cleve Clin J Med. 2002;69 (3): 224-6, 229-30, 232-3 passim. Cleve Clin J Med (abstract) - doi:10.3949/ccjm.69.3.224 - Pubmed citation
- 3. Passen EL, Rodriguez ER, Neumann A et-al. Images in cardiovascular medicine. Cardiac hemochromatosis. Circulation. 1996;94 (9): 2302-3. Circulation (full text) - doi:10.1161/01.CIR.94.9.2302 - Pubmed citation
- 4. Ptaszek LM, Price ET, Hu MY et-al. Early diagnosis of hemochromatosis-related cardiomyopathy with magnetic resonance imaging. J Cardiovasc Magn Reson. 2006;7 (4): 689-92. Pubmed citation
- 5. Blankenberg F, Eisenberg S, Scheinman MN et-al. Use of cine gradient echo (GRE) MR in the imaging of cardiac hemochromatosis. J Comput Assist Tomogr. 1994;18 (1): 136-8. Pubmed citation
- 6. Bilge AK, Altinkaya E, Ozben B, Pekun F, Adalet K, Yavuz S. Early detection of left ventricular dysfunction with strain imaging in thalassemia patients. (2010) Clinical cardiology. 33 (7): E29-34. doi:10.1002/clc.20584 - Pubmed
- 7. Olson LJ, Baldus WP, Tajik AJ. Echocardiographic features of idiopathic hemochromatosis. (1987) The American journal of cardiology. 60 (10): 885-9. Pubmed