On myocardial siderosis and left ventricular dysfunction in hemochromatosis

Journal of Cardiovascular Magnetic Resonance

Research

Agata E Grasso¹  John-Paul Carpenter²  Dudley J Pennell²  John B Porter³  James Dooley⁴  Farrukh Shah⁵ 

[1] Royal Brompton and Harefield NHS Foundation Trust, Sydney Street, SW3 6NP, London, UK;Royal Brompton and Harefield NHS Foundation Trust, Sydney Street, SW3 6NP, London, UK;Imperial College, London, UK;University College Hospital London, London, UK;University College London Medical School (Royal Free Campus), London, UK;Whittington Hospital, London, UK;University College London Medical School (Royal Free Campus), London, UK;

关键词: Iron overload;    Heart;    Hemochromatosis;    Cardiomyopathy;    Heart failure;    Magnetic resonance;   

DOI  :  10.1186/1532-429X-15-24

 received in 2013-02-20, accepted in 2013-03-12,  发布年份 2013

来源: Springer

【 摘 要 】

BackgroundChronically increased intestinal iron uptake in genetic hemochromatosis (HC) may cause organ failure. Whilst iron loading from blood transfusions may cause dilated cardiomyopathy in conditions such as thalassemia, the in-vivo prevalence of myocardial siderosis in HC is unclear, and its relation to left ventricular (LV) dysfunction is controversial. Most previous data on myocardial siderosis in HC has come from post-mortem studies.MethodsCardiovascular magnetic resonance (CMR) was performed at first presentation of 41 HC patients (58.9 ±14.1 years) to measure myocardial iron and left ventricular (LV) ejection fraction (EF).ResultsIn 31 patients (genetically confirmed HFE-HC), the HFE genotype was C282Y/C282Y (n = 30) and C282Y/H63D (n = 1). Patients with other genotypes (n = 10) were labeled genetically unconfirmed HC. Of the genetically confirmed HFE-HC patients, 6 (19%) had myocardial siderosis (T2* <20 ms). Of these, 5 (83%) had heart failure and reduced LVEF which was correlated to the severity of siderosis (R2 0.57, p = 0.049). Two patients had follow-up scans and both had marked improvements in T2* and LVEF following venesection. Myocardial siderosis was present in 6/18 (33%) of patients with presenting ferritin ≥1000 μg/L at diagnosis but in 0/13 (0%) patients with ferritin <1000 μg/L (p = 0.028). Overall however, the relation between myocardial siderosis and ferritin was weak (R2 0.20, p = 0.011). In the 10 genetically unconfirmed HC patients, 1 patient had mild myocardial siderosis but normal EF. Of all 31 patients, 4 had low LVEF from other identifiable causes without myocardial siderosis.ConclusionMyocardial siderosis was present in 33% of newly presenting genetically confirmed HFE-HC patients with ferritin >1000 μg/L, and was the commonest cause of reduced LVEF. Heart failure due to myocardial siderosis was only found in these HFE-HC patients, and was reversible with venesection. Myocardial iron was normal in patients with other causes of LV dysfunction.

【 授权许可】

Unknown   
© Carpenter et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.