ArticleHeart (British Cardiac Society)2000
Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy.
Article in Heart (British Cardiac Society), 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 40 citations in OpenAlex.
- Utilities and Limitations of Cardiac Magnetic Resonance Imaging in Dilated Cardiomyopathy.Korean journal of radiology · 2023Review
- Pathogenesis, Diagnosis, and Clinical Implications of Hereditary Hemochromatosis-The Cardiological Point of View.Diagnostics (Basel, Switzerland) · 2021Review
- HFE H63D Polymorphism and the Risk for Systemic Hypertension, Myocardial Remodeling, and Adverse Cardiovascular Events in the ARIC Study.Hypertension (Dallas, Tex. : 1979) · 2019Article
- On myocardial siderosis and left ventricular dysfunction in hemochromatosis.Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance · 2013Article
- Hereditary hemochromatosis (HFE) genotypes in heart failure: relation to etiology and prognosis.BMC medical genetics · 2010Article
- Phlebotomies as a treatment of serious heart failure due to haemochromatosis: a case report.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2009Article
- HFE mutations in heart disease.Heart and vessels · 2008Article
- Iron and thrombosis.Annals of hematology · 2008Review
- Transforming growth factor-beta(1) expression in dilated cardiomyopathy.Heart (British Cardiac Society) · 2001Article
- Tetrahydrobiopterin attenuates cholesterol induced coronary hyperreactivity to endothelin.Heart (British Cardiac Society) · 2001Article
- Percutaneous aortic valve replacement: will we get there?Heart (British Cardiac Society) · 2001Article
- Contrast enhanced magnetic resonance angiography and pulmonary venous anomalies.Heart (British Cardiac Society) · 2001Article
- Reciprocal increase of circulating interleukin-10 and interleukin-6 in patients with acute myocardial infarction.Heart (British Cardiac Society) · 2001Article
- Effects of cardiac resynchronisation on maximal and submaximal exercise performance in advanced heart failure patients with conduction abnormality.Heart (British Cardiac Society) · 2001Article
- Idiopathic dilated cardiomyopathy: lack of association with haemochromatosis gene in the CARDIGENE study.Heart (British Cardiac Society) · 2001Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTwo common mutations of the haemochromatosis associated gene (HFE) (cys282tyr (C282Y) and his63asp (H63D)) have been implicated in haemochromatosis and as modulators in cardiovascular disease.
objectiveTo investigate the role of these mutations in the pathogenesis of idiopathic dilated cardiomyopathy. DESIGN AND
settingCase-control and prospective cohort study of patients attending a cardiomyopathy unit in a tertiary referral cardiac centre.
methods207 unrelated white patients with dilated cardiomyopathy, followed up for 259 patient years, and 200 controls were tested for HFE C282Y and H63D mutations by polymerase chain reaction and restriction digestion.
results31/207 patients (15%) v 24/200 controls (12%) carried C282Y (adjusted odds ratio (OR) 1.2 (95% confidence interval 0.7 to 2.2)), 74/207 (36%) v 53/200 (27%) carried H63D (OR 1.6 (1.1 to 2.5)), and 10/207 (4.8%) v 4/200 (2%) were compound heterozygotes (OR 2.6 (0.8 to 8.5)). Four patients and six controls were H63D homozygous and one was C282Y homozygous. There was a progressive increase in mean serum iron ([Fe]) and transferrin saturations from patients with no mutation ([Fe] = 16.3 micromol/l, transferrin saturation = 23.7%) through H63D heterozygotes (17.5 micromol/l, 25.8%), C282Y heterozygotes (17.1 micromol/l, 26.6%), H63D homozygotes (20.0 micromol/l, 33.5%), compound heterozygotes (26.8 micromol/l, 41.7%), and C282Y homozygotes (34 micromol/l, 71%). At follow up (median 90 months) the rate of death or cardiac transplantation was 52/207 (25%). C282Y heterozygotes had less ventricular dilatation (mean (SD): 59.9 (1.7) mm v 64.9 (0.9) mm, p < 0.05), better fractional shortening (24 (1. 7)% v 18.8 (1.4)%, p < 0.01), and a trend towards improved survival without transplantation. [Fe] and transferrin saturation did not correlate with disease severity and were not associated with reduced survival.
conclusionsThe frequency of the H63D mutation is significantly increased in patients with idiopathic dilated cardiomyopathy. As H63D has a relatively minor effect on iron status, the mechanism of this association may be unrelated to iron metabolism.
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