PMID- 15642540
OWN - NLM
STAT- MEDLINE
DCOM- 20050607
LR  - 20161124
IS  - 1388-9842 (Print)
IS  - 1388-9842 (Linking)
VI  - 7
IP  - 1
DP  - 2005 Jan
TI  - Hereditary hemochromatosis gene (HFE) mutations C282Y, H63D and S65C in patients 
      with idiopathic dilated cardiomyopathy.
PG  - 103-8
AB  - 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 end-diastolic 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.
FAU - Hannuksela, Jokke
AU  - Hannuksela J
AD  - Department of Clinical Chemistry, University of Oulu, P.O. Box 5000, Oulu, 
      Finland. jokkeha@paju.oulu.fi
FAU - Leppilampi, Mari
AU  - Leppilampi M
FAU - Peuhkurinen, Keijo
AU  - Peuhkurinen K
FAU - Karkkainen, Satu
AU  - Karkkainen S
FAU - Saastamoinen, Eija
AU  - Saastamoinen E
FAU - Helio, Tiina
AU  - Helio T
FAU - Kaartinen, Maija
AU  - Kaartinen M
FAU - Nieminen, Markku S
AU  - Nieminen MS
FAU - Nieminen, Pentti
AU  - Nieminen P
FAU - Parkkila, Seppo
AU  - Parkkila S
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Heart Fail
JT  - European journal of heart failure
JID - 100887595
RN  - 0 (HFE protein, human)
RN  - 0 (Hemochromatosis Protein)
RN  - 0 (Histocompatibility Antigens Class I)
RN  - 0 (Membrane Proteins)
SB  - IM
MH  - Adult
MH  - Cardiomyopathy, Dilated/diagnosis/*genetics/physiopathology
MH  - Case-Control Studies
MH  - DNA Mutational Analysis
MH  - Genotype
MH  - Hemochromatosis/complications/genetics
MH  - Hemochromatosis Protein
MH  - Histocompatibility Antigens Class I/*genetics
MH  - Humans
MH  - Membrane Proteins/*genetics
MH  - Middle Aged
MH  - Mutation/*genetics
MH  - Phenotype
MH  - Severity of Illness Index
MH  - Stroke Volume
EDAT- 2005/01/12 09:00
MHDA- 2005/06/09 09:00
CRDT- 2005/01/12 09:00
PHST- 2003/12/08 00:00 [received]
PHST- 2004/01/06 00:00 [revised]
PHST- 2004/03/20 00:00 [accepted]
PHST- 2005/01/12 09:00 [pubmed]
PHST- 2005/06/09 09:00 [medline]
PHST- 2005/01/12 09:00 [entrez]
AID - S1388984204001072 [pii]
AID - 10.1016/j.ejheart.2004.03.007 [doi]
PST - ppublish
SO  - Eur J Heart Fail. 2005 Jan;7(1):103-8. doi: 10.1016/j.ejheart.2004.03.007.