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Hereditary hemochromatosis (HFE) genotypes in heart failure: relation to etiology and prognosis

Daniel V Møller1, Redi Pecini, Finn Gustafsson

  • 1Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. dvm@ssi.dk

BMC Medical Genetics
|July 31, 2010
PubMed

Insights

Hereditary hemochromatosis (HH) gene variants do not appear to cause heart failure (HF) in Denmark. HFE gene mutations were not found to impact patient mortality in this heart failure cohort.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hereditary hemochromatosis (HH) is linked to cardiac disease, including heart failure (HF) and ischemia.
  • HFE gene mutations are the most common cause of HH.
  • The etiological and prognostic roles of HFE genotypes in HF require further investigation.

Purpose of the Study:

  • To investigate the etiological role of HFE genotypes in heart failure.
  • To determine the prognostic significance of HFE genotypes in HF patients.

Main Methods:

  • A cohort of 667 HF patients with reduced ejection fraction was studied.
  • Patients were genotyped for HFE variants: C282Y, H63D, and S65C.
  • Follow-up was conducted for up to 5 years to assess mortality.

Main Results:

  • HFE genotype and allele frequencies in HF patients mirrored those in the general Danish population.
  • No significant association was found between C282Y, H63D, or S65C carrier status and mortality in multivariable analyses.
  • A trend towards reduced mortality was observed in homozygous/compound heterozygous carriers in univariate analysis, but not in multivariate analysis.

Conclusions:

  • HFE genotypes are unlikely to be a significant etiological factor for heart failure in the Danish population.
  • HFE gene variants do not appear to influence mortality among patients with heart failure.
Abstract

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