Hereditary hemochromatosis gene (HFE) mutations C282Y, H63D and S65C in patients with idiopathic dilated cardiomyopathy
| Autor: | Eija Saastamoinen, Tiina Heliö, Keijo Peuhkurinen, Seppo Parkkila, Mari Leppilampi, Markku S. Nieminen, Maija Kaartinen, Jokke Hannuksela, Satu Kärkkäinen, Pentti Nieminen |
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| Rok vydání: | 2005 |
| Předmět: |
Adult
Cardiomyopathy Dilated medicine.medical_specialty Pathology Genotype DNA Mutational Analysis Cardiomyopathy 030204 cardiovascular system & hematology Severity of Illness Index Loss of heterozygosity 03 medical and health sciences 0302 clinical medicine Internal medicine Idiopathic dilated cardiomyopathy medicine Humans Hemochromatosis Protein 030304 developmental biology 0303 health sciences Ejection fraction business.industry Histocompatibility Antigens Class I Case-control study Membrane Proteins Stroke Volume Middle Aged medicine.disease 3. Good health Phenotype Case-Control Studies Heart failure Hereditary hemochromatosis Mutation Cardiology Hemochromatosis Cardiology and Cardiovascular Medicine business |
| Zdroj: | European Journal of Heart Failure. 7:103-108 |
| ISSN: | 1388-9842 |
| Popis: | Background: Hereditary hemochromatosis (HH), a common autosomal recessive disease, leads to excessive iron accumulation in some organs, including the heart. It is therefore not surprising that cardiomyopathy is one of the most severe complications of HH. The HFE gene defects have been thought to contribute to idiopathic dilated cardiomyopathy (IDCM) in some patients, even though the results of genotype analyses have so far been contradictory. Hence we set out here to evaluate the prevalence and potential role of HFE mutations in patients with IDCM. Methods: A total of 91 IDCM patients and 102 controls were subjected to HFE mutation analyses, in which C282Y, H63D and S65C mutations were determined for each patient. We also analyzed the impact of the C282Y and H63D mutations on the left ventricular enddiastolic diameter (LVEDD), left ventricular ejection fraction (LVEF) and New York Heart Association (NYHA) functional classes. Results: The prevalences of heterozygosity for the C282Y, H63D and S65C mutations in the IDCM patients were 13.2%, 22.0% and 2.2%, respectively. LVEDD was significantly higher (P=0.037) in those with the C282Y mutation at the end of the follow-up period than in those with no mutation. Conclusions: Our data showed no significant deviations in C282Y, H63D and S65C mutation frequencies between the IDCM patients and controls, suggesting that these mutations do not increase the risk of IDCM. Heterozygosity for the C282Y mutation may nevertheless be a modifying factor contributing to LV dilatation and remodeling. |
| Databáze: | OpenAIRE |
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