Abstract | BACKGROUND: METHODS: Cardiovascular 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). RESULTS: In 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. CONCLUSION: Myocardial 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.
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Authors | John-Paul Carpenter, Agata E Grasso, John B Porter, Farrukh Shah, James Dooley, Dudley J Pennell |
Journal | Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance
(J Cardiovasc Magn Reson)
Vol. 15
Pg. 24
(Mar 19 2013)
ISSN: 1532-429X [Electronic] England |
PMID | 23509881
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Biomarkers
- HFE protein, human
- Hemochromatosis Protein
- Histocompatibility Antigens Class I
- Membrane Proteins
- Ferritins
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Topics |
- Adult
- Aged
- Biomarkers
(blood)
- Cardiomyopathies
(blood, diagnosis, etiology, pathology, physiopathology, therapy)
- Ferritins
(blood)
- Genetic Predisposition to Disease
- Heart Failure
(blood, etiology, physiopathology)
- Hemochromatosis
(blood, complications, diagnosis, genetics, therapy)
- Hemochromatosis Protein
- Hemosiderosis
(blood, diagnosis, etiology, pathology, physiopathology, therapy)
- Histocompatibility Antigens Class I
(genetics)
- Humans
- Linear Models
- Magnetic Resonance Imaging
- Membrane Proteins
(genetics)
- Middle Aged
- Myocardium
(metabolism, pathology)
- Phenotype
- Phlebotomy
- Prospective Studies
- Stroke Volume
- Ventricular Dysfunction, Left
(blood, diagnosis, etiology, pathology, physiopathology, therapy)
- Ventricular Function, Left
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