title: HFE mutations in idiopathic dilated cardiomyopathy.
abstract: OBJECTIVE
  Dilated cardiomyopathy is a typical complication of hereditary hemochromatosis (HH). The present study investigated, whether mutations of the hemochromatosis (HFE) gene might be etiologic and disease-modifying factors in idiopathic dilated cardiomyopathy
  
  
  METHODS
  Clinical and biochemical assessment and HFE gene analysis were perfomed in 46 patients with IDCM and 350 healthy controls. Cardiomyopathy was angiographically defined according to the criteria of the Collaborative Research Group of the European Human and Capital Mobility Project of Familial Dilated Cardiomyopathy.
  
  
  RESULTS
  A higher prevalence of C282Y homozygosity was found among patients with IDCM compared to healthy subjects (4.3% vs. 0.6%; p < 0.02). A total of 6.5% of the patients with IDCM were either C282Y homozygotes or C282Y/H63D compound heterozygotes. The C282Y allele frequency was somewhat higher among patients with IDCM (8.7%) compared to healthy controls (5.4%; p < 0.2), whereas the H63D allele frequency was not increased. No significant differences of serum iron, ferritin or transferrin saturation, cardiac iron loading, NYHA classification, Lown's classification, the history of cardiopulmonary resuscitation, LVEDD (left ventricular end-diastolic diameter), EF (ejection fraction), LADD (left atrial end-diastolic diameter) and CI (cardiac index) were seen between HFE carriers and noncarriers.
  
  
  CONCLUSIONS
  The present study indicates that it is worth screening patients with IDCM for iron parameters given the increased prevalence of disease-predisposing HFE constellations. It remains unclear, to what extent iron or immune-mediated processes contribute to the pathomechanism of IDCM.
authors.affiliation: Department of Gastroenterology, Hepatology and Infectiology, Heinrich Heine University Duesseldorf, Germany. Erhardt@uni-duesseldorf.de
authors.forename: Andreas
authors.initials: A
authors.lastname: Erhardt
authors.forename: Claudia
authors.initials: C
authors.lastname: Mellenthin
authors.forename: Christian
authors.initials: C
authors.lastname: Perings
authors.forename: Marcus
authors.initials: M
authors.lastname: Hennersdorf
authors.forename: Petra
authors.initials: P
authors.lastname: Reinecke
authors.forename: Bodo-Eckehard
authors.initials: BE
authors.lastname: Strauer
authors.forename: Dieter
authors.initials: D
authors.lastname: Häussinger
mesh_terms: D000328:Adult; D000483:Alleles; D001706:Biopsy; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006580:Genetic Carrier Screening; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000097:blood; D008111:Liver Function Tests; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009206:Myocardium / Q000473:pathology
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron