Hemochromatosis mutations are not linked to dilated cardiomyopathy in Israeli patients

European Journal of Heart Failure

Volumn 6, Issue 5, 2004, Pages 547-550

  Goland, Sorel ^a   Beilinson, Nick ^a   Kaftouri, Avinoam ^a   Shimoni, Sara ^a   Caspi, Abraham ^a   Malnick, Stephen D H ^a  

^a KAPLAN MEDICAL CENTER   (Israel)

Author keywords

Cardiomyopathy; Heart failure; Hemochromatosis; Mutations

Indexed keywords

FERRITIN; IRON; TRANSFERRIN;

ADULT; AGE DISTRIBUTION; AGED; ARTICLE; CARDIOMYOPATHY; COMPARATIVE STUDY; CONGESTIVE CARDIOMYOPATHY; CONGESTIVE HEART FAILURE; CONTROLLED STUDY; CORONARY ARTERY BYPASS SURGERY; DIABETES MELLITUS; DISEASE ASSOCIATION; DNA EXTRACTION; ELECTROCARDIOGRAPHY MONITORING; FEMALE; FERRITIN BLOOD LEVEL; GENE MUTATION; GENETIC PROCEDURES; HEART; HEART LEFT VENTRICLE FAILURE; HEMOCHROMATOSIS; HEMOGLOBIN DETERMINATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERTENSION; IRON BLOOD LEVEL; ISRAEL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; POPULATION GENETICS; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; SEX DIFFERENCE; STATISTICAL SIGNIFICANCE; TRANSFERRIN BLOOD LEVEL;

AGED; CARDIOMYOPATHY, DILATED; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HEART FAILURE, CONGESTIVE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; ISRAEL; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; SEROEPIDEMIOLOGIC STUDIES; VENTRICULAR DYSFUNCTION, LEFT;

EID: 4043144318     PISSN: 13889842     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejheart.2003.11.003     Document Type: Article

References (29)

1. Adams P., Brissot P., Powell L.W. EASL International consensus conference on hemochromatosis. J Hepatol. 33:2000;485-504
2. Feder J.N., Gnirke A., Thomas W., Tsuchihashi Z., Ruddy D.A., Basava A., et al. A novel MHC class-I like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 13:1996;399-408
3. Bacon B.R., Britton R.S. Hereditary Hemochromatosis in Sleisenger and Fordtran's Gastrointestinal and Liver Diseases. 6th ed:1998;1097-1103 WB Saunders, Philadelphia PA
4. Conte D., Manachino D., Colli A., Guala A., Aimo G., Andreoletti M., et al. Prevalence of genetic hemochromatosis in a cohort of Italian patients with diabetes mellitus. Ann Intern Med. 128:1998;370-373
5. Witte D.L., Crosby W.H., Edwards C.Q., Fairbanks V.F., Mitros F.A. Practice guideline development task force of the college of American pathologists. Hereditary hemochromatosis. Clin Chim Acta. 245:1996;139-200
6. Rasmussen M.L., Folsom A.R., Catellier D.J., Tsai M.Y., Garg U., Eckfeldt J.H. A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: the atherosclerosis risk in communities (ARIC) study. Atherosclerosis. 154:2001;739-746
7. Waalen J., Felitti V., Gelbart T., Ho N.J., Beutler E. Prevalence of coronary heart disease associated with HFE mutations in adults attending a health appraisal center. Am J Med. 113:2002;472-479
8. Richardson P., McKenna W., Bristow M. Report of the 1995 world health organization/international society and federation of cardiology task force on the definition and classification of cardiomyopathies. Circulation. 93:1996;841-842
9. Ellervik C., Mandrup-Poulsen T., Nordestgaard B.G., Larsen L.E., Appleyard M., Frandsen M., et al. Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: a retrospective study. Lancet. 358:2001;1405-1409
10. Salonen J.T., Toumainen T.-P., Kontula K. Role of C282Y mutation in hamochromatosis gene in development of type 2 diabetes in healthy men: prospective cohort study. BMJ. 320:2000;1706-1707
11. Dubois-Laforgue D., Caillat-Zucman S., Boitard C., Timsit J. Clinical characteristics of type 2 diabetes in patients with mutations of HFE. Diabetes Metab. 26:2000;65-68
12. Sampson M.J., Williams T., Heyburn P.J., Greenwood R.H., Temple R.C., Wimperis J.Z., et al. Prevalence of HFE (hemochromatosis gene) mutations in unselected male patients with type 2 diabetes. J Lab Clin Med. 135:2000;170-173
13. Case 31-1994. A 25-year-old man with the recent onset of diabetes mellitus and congestive heart failure (clinical conference) N Engl J Med 1994 Aug 18; 331: 460-6
14. Rivers J., Garrahy P., Robinson W., Murphy A. Reversible cardiac function in hemochromatosis. Am Heart J. 113:1987;216-217
15. Easley R.M., Schreiner B.F., Yill P.N. Reversible cardiomyopathy associated with hemochromatosis. N Engl J Med. 287:1972;866-887
16. Olson L.J., Edwards W.D., McCall J.T., Ilstrup D.M., Gersh B.J. Cardiac iron deposition in idiopathic hemochromatosis: histologic and analytic assessment of 14 hearts from autopsy. J Am Coll Cardiol. 10:1987;1239-1243
17. Rahko P.S., Sclerni R., Uretsky B.F. Successful reversal by chelation therapy of congestive cardiomyopathy due to iron overload. J Am Coll Cardiol. 8:1986;436-440
18. Rasmussen M.L., Folsom A.R., Catellier D.J., Tsai M.Y., Garg U., Eckfeldt J.H. A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: the atherosclerosis risk in communities (ARIC) study. Atherosclerosis. 154:2001;739-746
19. Failla M., Giannattasio C., Piperno A., Vergani A., Grappiolo A., Gentile G., et al. Radial artery wall alterations in genetic hemochromatosis before and after iron depletion therapy. Hepatology. 32:2000;569-573
20. Hetet G., Elbaz A., Gariepy J., Nicaud V., Arveiler D., Morrison C., et al. Association studies between hemochromatosis gene mutations and the risk of cardiovascular diseases. Eur J Clin Invest. 31:2001;382-388
21. Battiloro E., Ombres D., Pascale E., D'Ambrosio E., Verna A., Aeca M. Haemochromatosis gene mutations and risk of coronary artery disease. Eur J Hum Genet. 8:2000;389-392
22. Annichino-Bizachhi J.M., Saad S.T., Arruda V.R., Ramires J.A., Siqueira L.H., Chiaparini L.C., et al. C282Y mutation in the HLA-H gene is not a risk factor for patients with myocardial infarction. J Cardiovasc Risk. 7:2000;37-40
23. Calado R.T., Franco R.F., Pazin-Filho A., Simoes M.V., Marin-Neto J.A., Zago M.A. HFE gene mutations in coronary atherothrombotic disease. Braz J Med Biol Res. 33:2000;301-306
24. Rossi E., McQuillan B.M., Hung J., Thompson P.L., Kuek C., Beilby J.P. Serum ferritin and C282Y mutation of the hemochromatosis gene as predictors of asymptomatic carotid atherosclerosis in a community population. Stroke. 31:2000;3015-3020
25. Franco R.F., Zago M.A., Trip M.D., ten Cate H., van den Ende A., Prins M.H., et al. Prevalence of hereditary haemochromatosis in premature atherosclerotic vascular disease. Br J Haemotol. 102:1998;1172-1175
26. Waalen J., Felitti V., Gelbert T., Ho N.J., Beutler E. Prevalence of coronary heart disease associated with HFE mutations in adults attending a health appraisal center. Am J Med. 113:2002;472-479
27. Mahon N.G., Coonar A.S., Jeffrey S., Coccolo F., Akiyu J., Zai B., et al. Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy. Heart. 84:2000;541-547
28. Pereira A.C., Cuoco M.A.R., Mota G.F., da Silva F.F., Freitas H.F.G., Bocchi E.A., et al. Hemochromatosis gene variants in patients with cardiomyopathy. Am J Cardiol. 88:2001;388-391
29. Beutler E., Gelbart T. HLA-H mutations in the Ashkenazi Jewish population. Blood Cells Mol Dis. 23:1997;95-98