Cardiac involvement in hemochromatosis

Vinay Gulati, Prakash Harikrishnan, Chandrasekar Palaniswamy, Wilbert S. Aronow, Diwakar Jain, William H. Frishman

Research output: Contribution to journalReview article

Abstract

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.

Original languageEnglish (US)
Pages (from-to)56-68
Number of pages13
JournalCardiology in Review
Volume22
Issue number2
DOIs
StatePublished - Mar 1 2014
Externally publishedYes

Fingerprint

Iron Overload
Hemochromatosis
Iron
Heart Failure
Chelation Therapy
Transferrin Receptors
Phlebotomy
Doppler Echocardiography
Dilated Cardiomyopathy
Genetic Testing
Transferrin
Ferritins
Cardiomyopathies
Echocardiography
Cardiac Arrhythmias
Survival Rate
Magnetic Resonance Imaging
Mutation
Survival
Therapeutics

Keywords

  • cardiomyopathy
  • hemochromatosis
  • iron overload

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Gulati, V., Harikrishnan, P., Palaniswamy, C., Aronow, W. S., Jain, D., & Frishman, W. H. (2014). Cardiac involvement in hemochromatosis. Cardiology in Review, 22(2), 56-68. https://doi.org/10.1097/CRD.0b013e3182a67805

Cardiac involvement in hemochromatosis. / Gulati, Vinay; Harikrishnan, Prakash; Palaniswamy, Chandrasekar; Aronow, Wilbert S.; Jain, Diwakar; Frishman, William H.

In: Cardiology in Review, Vol. 22, No. 2, 01.03.2014, p. 56-68.

Research output: Contribution to journalReview article

Gulati, V, Harikrishnan, P, Palaniswamy, C, Aronow, WS, Jain, D & Frishman, WH 2014, 'Cardiac involvement in hemochromatosis', Cardiology in Review, vol. 22, no. 2, pp. 56-68. https://doi.org/10.1097/CRD.0b013e3182a67805
Gulati V, Harikrishnan P, Palaniswamy C, Aronow WS, Jain D, Frishman WH. Cardiac involvement in hemochromatosis. Cardiology in Review. 2014 Mar 1;22(2):56-68. https://doi.org/10.1097/CRD.0b013e3182a67805
Gulati, Vinay ; Harikrishnan, Prakash ; Palaniswamy, Chandrasekar ; Aronow, Wilbert S. ; Jain, Diwakar ; Frishman, William H. / Cardiac involvement in hemochromatosis. In: Cardiology in Review. 2014 ; Vol. 22, No. 2. pp. 56-68.
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