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On myocardial siderosis and left ventricular dysfunction in hemochromatosis

John-Paul Carpenter1, Agata E Grasso, John B Porter

  • 1Royal Brompton and Harefield NHS Foundation Trust, Sydney Street, London, SW3 6NP, UK.

Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance
|March 21, 2013
PubMed

Insights

Genetic hemochromatosis (HC) can lead to myocardial siderosis and heart failure. This iron overload in the heart is the most common cause of reduced left ventricular ejection fraction in HFE-HC patients and is reversible with venesection.

Area of Science:

  • Cardiology
  • Genetics
  • Iron Metabolism

Background:

  • Genetic hemochromatosis (HC) involves increased intestinal iron absorption, potentially leading to organ damage.
  • The prevalence and impact of myocardial siderosis in HC patients are not well-established, with limited data from post-mortem studies.
  • Iron overload from blood transfusions can cause cardiomyopathy, but its role in HC is less clear.

Purpose of the Study:

  • To investigate the in-vivo prevalence of myocardial siderosis in patients with genetic hemochromatosis (HC).
  • To assess the relationship between myocardial iron levels and left ventricular (LV) dysfunction in HC patients.
  • To determine if myocardial siderosis is a reversible cause of LV dysfunction in HC.

Main Methods:

  • Cardiovascular magnetic resonance (CMR) was used to measure myocardial iron levels (T2* values) and left ventricular ejection fraction (LVEF) in 41 HC patients.
  • Patients were categorized based on genetic confirmation of HFE-HC and presenting ferritin levels.
  • Follow-up CMR scans were performed after venesection in two patients.

Main Results:

  • Myocardial siderosis (T2* <20 ms) was found in 19% of genetically confirmed HFE-HC patients.
  • Of those with myocardial siderosis, 83% had heart failure and reduced LVEF, correlated with iron levels.
  • Myocardial siderosis was significantly more common in patients with presenting ferritin ≥ 1000 microg/L (33%) compared to those with ferritin <1000 microg/L (0%).
  • Two patients showed significant improvement in T2* and LVEF after venesection.
  • Other causes of LV dysfunction were identified in 4 patients without myocardial siderosis.

Conclusions:

  • Myocardial siderosis is a significant finding in newly presenting HFE-HC patients, particularly those with high ferritin levels.
  • Myocardial siderosis is the most common cause of reduced LVEF in these patients and is reversible with venesection.
  • In HFE-HC, heart failure associated with myocardial siderosis is treatable, highlighting the importance of early diagnosis and intervention.
Abstract

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