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Idiopathic dilated cardiomyopathy: lack of association with haemochromatosis gene in the CARDIGENE study
  1. G HETET1,
  3. C BOUCHIER2,3,
  4. V NICAUD3,4,
  5. L TIRET3,4,
  6. G ROIZÈS5,
  7. M DESNOS6,
  9. R DORENT8,
  10. M KOMAJDA2,3,9,
  1. 1INSERM U409, Association Claude Bernard
  2. Université Paris VII, Paris
  3. 2Laboratoire Génétique et Insuffisance Cardiaque
  4. Association Claude Bernard/Université Paris VI
  5. Groupe hospitalier Pitié-Salpêtrière, Paris
  6. 3IFR 14 “Coeur, Muscles et Vaisseaux”, Paris
  7. 4INSERM U525, Paris
  8. 5INSERM U249, Montpellier
  9. 6Service de Cardiologie
  10. Hôpital Européen G Pompidou, Paris
  11. 7INSERM U523, Paris
  12. 8Service de Chirurgie Cardiaque
  13. 9Service de Cardiologie
  14. Groupe hospitalier Pitié-Salpêtrière, Paris
  15. France
  1. Dr C Bouchier, Laboratoire Génétique et Insuffisance Cardiaque, Pavillon Rambuteau, Groupe hospitalier Pitié-Salpêtrière, 47 bd de l'Hôpital, 75651 Paris cedex 13, France; bouchier{at}

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The hereditary haemochromatosis gene (HFE) has recently been proposed as a disease modifying gene.1 The rationale is that two common mutations of the HFE gene (C282Y and H63D) are found in a majority of patients with genetic haemochromatosis who are either homozygotes (C282Y/C282Y) or compound heterozygotes (C282Y/H63D). These mutations have been shown to contribute to more subtle modifications of iron homeostasis at the heterozygous state.2 In turn, iron may predispose to myocardial damage through the production of activated oxygen species. Recently, Mahon and colleagues have reported an association between the H63D mutation and idiopathic dilated cardiomyopathy (IDCM).3 In this study, 207 unrelated white patients with dilated cardiomyopathy and 200 controls were tested for HFE C282Y and H63D mutations. An increased proportion of H63D heterozygotes was found among patients (36%) as compared to the control group (27%). No association was found with C282Y mutation and as the H63D mutation had a relatively minor effect on iron status, these authors proposed that this association may be …

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