Iron overload cardiomyopathy in clinical practice

Circulation

Volumn 124, Issue 20, 2011, Pages 2253-2263

  Kremastinos, Dimitrios T ^a   Farmakis, Dimitrios ^a  

^a NATIONAL AND KAPODISTRIAN UNIVERSITY OF ATHENS   (Greece)

Author keywords

cardiomyopathy; hemochromatosis; iron overload; thalassemia

Indexed keywords

CERULOPLASMIN; DEFERASIROX; DEFERIPRONE; DEFEROXAMINE; FERRIC ION; FERRITIN; FERROPORTIN; FERROUS ION; HEMOJUVELIN; HEPCIDIN; TRANSFERRIN RECEPTOR 2;

CARDIOMYOPATHY; CARDIOVASCULAR MAGNETIC RESONANCE; CHELATION THERAPY; CLINICAL PRACTICE; HEART LEFT VENTRICLE EJECTION FRACTION; HEART VENTRICLE REMODELING; HEMOCHROMATOSIS; HUMAN; IRON METABOLISM; IRON OVERLOAD; IRON OVERLOAD CARDIOMYOPATHY; IRON STORAGE; MYELODYSPLASTIC SYNDROME; PATHOGENESIS; PHLEBOTOMY; PRIORITY JOURNAL; REVIEW; THALASSEMIA MAJOR;

ANIMALS; CARDIOMYOPATHIES; CLINICAL TRIALS AS TOPIC; HEMOCHROMATOSIS; HUMANS; IRON OVERLOAD; PHENOTYPE;

EID: 81355142733     PISSN: 00097322     EISSN: 15244539     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.111.050773     Document Type: Review

References (76)

1. Gujja P, Rosing DR, Tripodi DJ, Shizukuda Y. Iron overload cardiomy-opathy: better understanding of an increasing disorder. J Am Coll Cardiol. 2010;56:1001-1012.
2. Murphy CJ, Oudit GY. Iron-overload cardiomyopathy: pathophysiology, diagnosis, and treatment. J Card Fail. 2010;16:888-900.
3. Hare JM. The dilated, restrictive and infiltrative cardiomyopathies. In: Libby P, Bonow RO, Mann DL, Zipes DP, eds. Braunwald's Heart Disease. Philadelphia, PA: Saunders Elsevier; 2008;1754-1755.
4. Spirito P, Lupi G, Melevendi C, Vecchio C. Restrictive diastolic abnormalities identified by Doppler echocardiography in patients with thala-ssemia major. Circulation. 1990;82:88-94. (Pubitemid 20216319)
5. Kremastinos DT, Tsiapras DP, Tsetsos GA, Rentoukas EI, Vretou HP, Toutouzas PK. Left ventricular diastolic Doppler characteristics in beta-thalassemia major. Circulation. 1993;88:1127-1135. (Pubitemid 23264030)
6. McLaren GD, Muir WA, Kellermeyer RW. Iron overload disorders: natural history, pathogenesis, diagnosis, and therapy. Crit Rev Clin Lab Sci. 1983;19:205-266.
7. Dunn LL, Rahmanto YS, Richardson DR. Iron uptake and metabolism in the new millennium. Trends Cell Biol. 2007;17:93-100. (Pubitemid 46199183)
8. Anker SD, Comin Colet J, Filippatos G, Willenheimer R, Dickstein K, Drexler H, Lüscher TF, Bart B, Banasiak W, Niegowska J, Kirwan BA, Mori C, von Eisenhart Rothe B, Pocock SJ, Poole-Wilson PA, Pon-ikowski P; FAIR-HF Trial Investigators. Ferric carboxymaltose in patients with heart failure and iron deficiency. N Engl J Med. 2009;361: 2436-2448.
9. Liu P, Olivieri N. Iron overload cardiomyopathies: new insights into an old disease. Cardiovasc Drugs Ther. 1994;8:101-110. (Pubitemid 24164805)
10. Kremastinos DT, Farmakis D, Aessopos A, Hahalis G, Hamodraka E, Tsiapras D, Keren A. Beta-thalassemia cardiomyopathy: history, present considerations, and future perspectives. Circ Heart Fail. 2010;3: 451-458.
11. Wood JC. History and current impact of cardiac magnetic resonance imaging on the management of iron overload. Circulation. 2009;120: 1937-1939.
12. Pietrangelo A. Hereditary hemochromatosis-a new look at an old disease. N Engl J Med. 2004;350:2383-2397.
13. Porter JB. Concepts and goals in the management of transfusional iron overload. Am J Hematol. 2007;82(12 suppl):1136-1139. (Pubitemid 350221244)
14. Wood JC. Cardiac iron across different transfusion-dependent diseases. Blood Rev. 2008;22(suppl 2):S14-S21.
15. Hellström-Lindberg E. Management of anemia associated with myelo-dysplastic syndrome. Semin Hematol. 2005;42:S10-S13. (Pubitemid 40410478)
16. Jensen PD, Jensen FT, Christensen T, Eiskjaer H, Baandrup U, Nielsen JL. Evaluation of myocardial iron by magnetic resonance imaging during iron chelation therapy with deferrioxamine: indication of close relation between myocardial iron content and chelatable iron pool. Blood. 2003; 101:4632-4639. (Pubitemid 36857840)
17. Brittenham GM. Iron-chelating therapy for transfusional iron overload. N Engl J Med. 2011;364:146-156.
18. Ghoti H, Amer J, Winder A, Rachmilewitz E, Fibach E. Oxidative stress in red blood cells, platelets and polymorphonuclear leukocytes from patients with myelodysplastic syndrome. Eur J Haematol. 2007;79: 463-467. (Pubitemid 350126678)
19. Oudit GY, Sun H, Trivieri MG, Koch SE, Dawood F, Ackerley C, Yazdanpanah M, Wilson GJ, Schwartz A, Liu PP, Backx PH. L-type Ca2 + channels provide a major pathway for iron entry into cardiomyo-cytes in iron-overload cardiomyopathy. Nat Med. 2003;9:1187-1194. (Pubitemid 37173704)
20. Carpenter JP, He T, Kirk P, Roughton M, Anderson LJ, de Noronha SV, Sheppard MN, Porter JB, Walker JM, Wood JC, Galanello R, Forni G, Catani G, Matta G, Fucharoen S, Fleming A, House MJ, Black G, Firmin DN, St. Pierre TG, Pennell DJ. On T2* magnetic resonance and cardiac iron. Circulation. 2011;123:1519-1528.
21. Kremastinos DT, Toutouzas PK, Vyssoulis GP, Venetis CA, Avgoustakis DG. Iron overload and left ventricular performance in beta thalassemia. Acta Cardiol. 1984;39:29-40. (Pubitemid 14155026)
22. Kremastinos DT, Toutouzas PK, Vyssoulis GP, Venetis CA, Vretou HP, Avgoustakis DG. Global and segmental left ventricular function in beta-thalassemia. Cardiology. 1985;72:129-139. (Pubitemid 15079042)
23. Kremastinos DT, Tiniakos G, Theodorakis GN, Katritsis DG, Toutouzas PK. Myocarditis in/3-thalassemia major: a cause of heart failure. Circulation. 1995;91:66-71.
24. Kremastinos DT, Flevari P, Spyropoulou M, Vrettou H, Tsiapras D, Stavropoulos-Giokas CG. Association of heart failure in homozygous beta-thalassemia with the major histocompatibility complex. Circulation. 1999;100:2074-2078. (Pubitemid 29532058)
25. Economou-Petersen E, Aessopos A, Kladi A, Flevari P, Karabatsos F, Fragodimitri C, Nicolaidis P, Vrettou H, Vassilopoulos D, Karagiorga-Lagana M, Kremastinos DT, Petersen MB. Apolipoprotein E epsilon4 allele as a genetic risk factor for left ventricular failure in homozygous beta-thalassemia. Blood. 1998;92:3455-3459. (Pubitemid 28492358)
26. Aessopos A, Berdoukas V, Tsironi M. The heart in transfusion dependent homozygous thalassaemia today-prediction, prevention and management. Eur J Haematol. 2008;80:93-106.
27. Farmakis D, Giakoumis A, Polymeropoulos E, Aessopos A. Pathogenetic aspects of immune deficiency associated with beta-thalassemia. Med Sci Monit. 2003;9:RA19-RA22. (Pubitemid 36206928)
28. Jessup M, Manno CS. Diagnosis and management of iron-induced heart disease in Cooley's anemia. Ann N Y Acad Sci. 1998;850:242-250. (Pubitemid 28369765)
29. Bosi G, Crepaz R, Gamberini MR, Fortini M, Scarcia S, Bonsante E, Pitscheider W, Vaccari M. Left ventricular remodelling, and systolic and diastolic function in young adults with beta thalassaemia major: a Dopp-ler echocardiographic assessment and correlation with haematological data. Heart. 2003;89:762-766 (Pubitemid 36760638)
30. Kremastinos DT, Tsiapras DP, Kostopoulou AG, Hamodraka ES, Chai-daroglou AS, Kapsali ED. NT-proBNP levels and diastolic dysfunction in beta-thalassaemia major patients. Eur J Heart Fail. 2007;9:531-536. (Pubitemid 46561485)
31. Kremastinos DT, Hamodraka E, Parissis J, Tsiapras D, Dima K, Maisel A. Predictive value of B-type natriuretic peptides in detecting latent left ventricular diastolic dysfunction in beta-thalassemia major. Am Heart J. 2010;159:68-74.
32. Kremastinos DT. Heart failure in beta-thalassemia. Congest Heart Fail. 2001;7:312-314.
33. Anderson LJ, Holden S, Davis B, Prescott E, Charrier CC, Bunce NH, Firmin DN, Wonke B, Porter J, Walker JM, Pennell DJ. Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload. Eur Heart J. 2001;22:2171-2179. (Pubitemid 33139463)
34. Aessopos A, Fragodimitri C, Karabatsos F, Hatziliami A, Yousef J, Giakoumis A, Dokou A, Gotsis ED, Berdoukas V, Karagiorga M. Cardiac magnetic resonance imaging R2* assessments and analysis of historical parameters in patients with transfusion-dependent thalassemia. Haemato-logica. 2007;92:131-132. (Pubitemid 46232670)
35. Marsella M, Borgna-Pignatti C, Meloni A, Caldarelli V, Dell'Amico MC, Spasiano A, Pitrolo L, Cracolici E, Valeri G, Positano V, Lombardi M, Pepe A. Cardiac iron and cardiac disease in males and females with transfusion-dependent thalassemia major: a T2* magnetic resonance imaging study. Haematologica. 2011;96:515-520.
36. Pepe A, Positano V, Capra M, Maggio A, Pinto CL, Spasiano A, Forni G, Derchi G, Favilli B, Rossi G, Cracolici E, Midiri M, Lombardi M. Myocardial scarring by delayed enhancement cardiovascular magnetic resonance in thalassaemia major. Heart. 2009;95:1688-1693.
37. Kirk P, Carpenter JP, Tanner MA, Pennell DJ. Low prevalence of fibrosis in thalassemia major assessed by late gadolinium enhancement cardiovascular magnetic resonance. J Cardiovasc Magn Reson. 2011;13:8.
38. Kremastinos TD, Rentoukas E, Mavrogeni S, Kyriakides ZS, Politis C, Toutouzas P. Left ventricular inflow pattern in B-thalassemia major: a Doppler echocardiographic study. Eur Heart J. 1993;14:351-357. (Pubitemid 23103417)
39. Westwood MA, Anderson LJ, Maceira AM, Shah FT, Prescott E, Porter JB, Wonke B, Walker JM, Pennell DJ. Normalized left ventricular volumes and function in thalassemia major patients with normal myo-cardial iron. J Magn Reson Imaging. 2007;25:1147-1151. (Pubitemid 46870271)
40. Hahalis G, Manolis AS, Apostolopoulos D, Alexopoulos D, Vagenakis AG, Zoumbos NC. Right ventricular cardiomyopathy in beta-thalassaemia major. Eur Heart J. 2002;23:147-156. (Pubitemid 35204233)
41. Alpendurada F, Carpenter JP, Deac M, Kirk P, Walker JM, Porter JB, Banya W, He T, Smith GC, Pennell DJ. Relation of myocardial T2* to right ventricular function in thalassaemia major. Eur Heart J. 2010;31: 1648-1654.
42. Modell B, Khan M, Darlison M, Westwood MA, Ingram D, Pennell DJ. Improved survival of thalassaemia major in the UK and relation to T2* cardiovascular magnetic resonance. J Cardiovasc Magn Reson. 2008; 10:42.
43. Davis BA, O'Sullivan C, Jarritt PH, Porter JB. Value of sequential monitoring of left ventricular ejection fraction in the management of thalassemia major. Blood. 2004;104:263-269. (Pubitemid 38879867)
44. The management of the cardiac complications of thalassaemia major. In Guidelines for the Clinical Management of Thalassaemia. 2nd revised ed. Nicosia, Cyprus: Thalassaemia International Federation, 2008, 83-91.
45. Aessopos A, Farmakis D, Karagiorga M, et al. Cardiac involvement in thalassemia intermedia: a multicenter study. Blood. 2001;97:3411-3416.
46. Aessopos A, Kati M, Farmakis D, Polonifi E, Deftereos S, Tsironi M. Intensive chelation therapy in beta-thalassemia and possible adverse cardiac effects of desferrioxamine. Int J Hematol. 2007;86:212-215. (Pubitemid 350085808)
47. Aessopos A, Farmakis D, Deftereos S, Tsironi M, Tassiopoulos S, Moyssakis I, Karagiorga M. Thalassemia heart disease: a comparative evaluation of thalassemia major and thalassemia intermedia. Chest. 2005; 127:1523-1530. (Pubitemid 46218775)
48. Aessopos A, Farmakis D, Hatziliami A, Fragodimitri C, Karabatsos F, Joussef J, Mitilineou E, Diamanti-Kandaraki E, Meletis J, Karagiorga M. Cardiac status in well-treated patients with thalassemia major. Eur J Haematol. 2004;73:359-366. (Pubitemid 39349917)
49. Bilge AK, Altinkaya E, Ozben B, Pekun F, Adalet K, Yavuz S. Early detection of left ventricular dysfunction with strain imaging in thala-ssemia patients. Clin Cardiol. 2010;33:E29-E34.
50. Kirk P, Roughton M, Porter JB, Walker JM, Tanner MA, Patel J, Wu D, Taylor J, Westwood MA, Anderson LJ, Pennell DJ. Cardiac T2* magnetic resonance for prediction of cardiac complications in thalassemia major. Circulation. 2009;120:1961-1968.
51. Olivieri NF, Nathan DG, MacMillan JH, Wayne AS, Liu PP, McGee A, Martin M, Koren G, Cohen AR. Survival in medically treated patients with homozygous beta-thalassemia. N Engl J Med. 1994;331:574-578. (Pubitemid 24265699)
52. Tanner MA, Galanello R, Dessi C, Smith GC, Westwood MA, Agus A, Pibiri M, Nair SV, Walker JM, Pennell DJ. Combined chelation therapy in thalassemia major for the treatment of severe myocardial siderosis with left ventricular dysfunction. J Cardiovasc Magn Reson. 2008;10:12.
53. Anderson LJ, Wonke B, Prescott E, Holden S, Walker JM, Pennell DJ. Comparison of effects of oral deferiprone and subcutaneous desfer-rioxamine on myocardial iron concentrations and ventricular function in beta-thalassaemia. Lancet. 2002;360:516-520. (Pubitemid 35232104)
54. Piga A, Gaglioti C, Fogliacco E, Tricta F. Comparative effects of defer-iprone and deferoxamine on survival and cardiac disease in patients with thalassemia major: a retrospective analysis. Haematologica. 2003;88: 489-496. (Pubitemid 36648438)
55. Galia M, Midiri M, Bartolotta V, Morabito A, Rizzo M, Mangiagli A, Malizia R, Borsellino Z, Capra M, D'Ascola DG, Magnano C, Gerardi C, Rigano P, Maggio A; Multicenter Trial Group of the Society for the Study of Thalassemia and Haemoglobinopathies. Potential myocardial iron content evaluation by magnetic resonance imaging in thalassemia major patients treated with Deferoxamine or Deferiprone during a randomized multicenter prospective clinical study. Hemoglobin. 2003;27:63-76. (Pubitemid 36597401)
56. Pennell DJ, Berdoukas V, Karagiorga M, Ladis V, Piga A, Aessopos A, Gotsis ED, Tanner MA, Smith GC, Westwood MA, Wonke B, Galanello R. Randomized controlled trial of deferiprone or deferoxamine in beta-thalassemia major patients with asymptomatic myocardial siderosis. Blood. 2006;107:3738-3744.
57. Pepe A, Lombardi M, Positano V, Cracolici E, Capra M, Malizia R, Prossomariti L, De Marchi D, Midiri M, Maggio A. Evaluation of the efficacy of oral deferiprone in beta-thalassemia major by multislice mul-tiecho T2*. Eur J Haematol. 2006;76:183-192.
58. Christoforidis A, Haritandi A, Tsatra I, Tsitourides I, Karyda S, Athanassiou-Metaxa M. Four-year evaluation of myocardial and liver iron assessed prospectively with serial MRI scans in young patients with beta-thalassaemia major: comparison between different chelation regimens. Eur J Haematol. 2007;78:52-57. (Pubitemid 46018559)
59. Tanner MA, Galanello R, Dessi C, Smith GC, Westwood MA, Agus A, Roughton M, Assomull R, Nair SV, Walker JM, Pennell DJ. A randomized, placebo-controlled, double-blind trial of the effect of combined therapy with deferoxamine and deferiprone on myocardial iron in thalassemia major using cardiovascular magnetic resonance. Circulation. 2007;115:1876-1884. (Pubitemid 46598901)
60. Maggio A, Vitrano A, Capra M, Cuccia L, Gagliardotto F, Filosa A, Magnano C, Rizzo M, Caruso V, Gerardi C, Argento C, Campisi S, Cantella F, Commendatore F, D'Ascola DG, Fidone C, Ciancio A, Galati MC, Giuffrida G, Cingari R, Giugno G, Lombardo T, Prossomariti L, Malizia R, Meo A, Roccamo G, Romeo MA, Violi P, Cianciulli P, Rigano P. Improving survival with deferiprone treatment in patients with thalassemia major: a prospective multicenter randomised clinical trial under the auspices of the Italian Society for Thalassemia and Hemoglobinopathies. Blood Cells Mol Dis. 2009;42:247-251.
61. Berdoukas V, Chouliaras G, Moraitis P, Zannikos K, Berdoussi E, Ladis V. The efficacy of iron chelator regimes in reducing cardiac and hepatic iron in patients with thalassaemia major: a clinical observational study. J Cardiovasc Magn Reson. 2009;11:20.
62. Pennell DJ, Porter JB, Cappellini MD, El-Beshlawy A, Chan LL, Aydinok Y, Elalfy MS, Sutcharitchan P, Li CK, Ibrahim H, Viprakasit V, Kattamis A, Smith G, Habr D, Domokos G, Roubert B, Taher A. Efficacy of deferasirox in reducing and preventing cardiac iron overload in beta-thalassemia. Blood. 2010;115:2364-2371.
63. Pennell DJ, Porter JB, Cappellini MD, Chan LL, El-Beshlawy A, Aydinok Y, Ibrahim H, Li CK, Viprakasit V, Elalfy MS, Kattamis A, Smith G, Habr D, Domokos G, Roubert B, Taher A. Continued improvement in myocardial T2* over two years of deferasirox therapy in/3-thalassemia major patients with cardiac iron overload. Haematologica. 2011;96:48-54.
64. Pepe A, Meloni A, Capra M, Cianciulli P, Prossomariti L, Malaventura C, Putti MC, Lippi A, Romeo MA, Bisconte MG, Filosa A, Caruso V, Quarta A, Pitrolo L, Missere M, Midiri M, Rossi G, Positano V, Lombardi M, Maggio A. Deferasirox, deferiprone and desferrioxamine treatment in thalassemia major patients: cardiac iron and function comparison determined by quantitative magnetic resonance imaging. Haematologica. 2011;96:41-47.
65. Rose C, Brechignac S, Vassilief D, Pascal L, Stamatoullas A, Guerci-Bresler A, Larbaa D, Dreyfus F, Beyne-Rauzy O, Chaury MP, Roy L, Cheze S, Morel P, Fenaux P. Does iron chelation therapy improve survival in regularly transfused lower risk MDS patients? A multicenter study by the GFM. Leuk Res. 2010;34:864-870.
66. Leitch HA, Leger CS, Goodman TA, Wong KK, Wong DH, Ramadan KM, Rollins MD, Barnett MJ, Galbraith PF, Vickars LM. Improved survival in patients with myelodysplastic syndrome receiving iron chelation therapy. Clin Leukemia. 2008;2:205-211.
67. Gattermann N, Finelli C, Della Porta M, Fenaux P, Ganser A, Guerci-Bresler A, Schmid M, Taylor K, Vassilief D, Habr D, Domokos G, Roubert B, Rose C. Deferasirox in iron-overloaded patients with transfusion-dependent myelodysplastic syndromes: Results from the large 1-year EPIC study. Leuk Res. 2010;34:1143-1150.
68. Rienhoff HY Jr, Viprakasit V, Tay L, Harmatz P, Vichinsky E, Chirnomas D, Kwiatkowski JL, Tapper A, Kramer W, Porter JB, Neufeld EJ. A phase 1 dose-escalation study: safety, tolerability, and pharmaco-kinetics of FBS0701, a novel oral iron chelator for the treatment of transfusional iron overload. Haematologica. 2011;96:521-525.
69. Bennett JM. Consensus statement on iron overload in myelodysplastic syndromes. Am J Hematol. 2008;83:858-861.
70. Jessup M, Abraham WT, Casey DE, Feldman AM, Francis GS, Ganiats TG, Konstam MA, Mancini DM, Rahko PS, Silver MA, Stevenson LW, Yancy CW. 2009 focused update: ACCF/AHA Guidelines for the Diagnosis and Management of Heart Failure in Adults: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines: developed in collaboration with the International Society for Heart and Lung Transplantation. Circulation. 2009;119:1977-2016.
71. Task Force for Diagnosis and Treatment of Acute and Chronic Heart Failure 2008 of European Society of Cardiology, Dickstein K, Cohen-Solal A, Filippatos G, McMurray JJ, Ponikowski P, Poole-Wilson PA, Strömberg A, van Veldhuisen DJ, Atar D, Hoes AW, Keren A, Mebazaa A, Nieminen M, Priori SG, Swedberg K; ESC Committee for Practice Guidelines, Vahanian A, Camm J, De Caterina R, Dean V, Dickstein K, Filippatos G, Funck-Brentano C, Hellemans I, Kristensen SD, McGregor K, Sechtem U, Silber S, Tendera M, Widimsky P, Zamorano JL. ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure 2008: the Task Force for the Diagnosis and Treatment of Acute and Chronic Heart Failure 2008 of the European Society of Cardiology. Developed in collaboration with the Heart Failure Association of the ESC (HFA) and endorsed by the European Society of Intensive Care Medicine (ESICM). Eur Heart J. 2008;29:2388-2442.
72. Kremastinos DT, Tsetsos GA, Tsiapras DP, Karavolias GK, Ladis VA, Kattamis CA. Heart failure in beta thalassemia: a 5-year follow-up study. Am J Med. 2001;111:349-354. (Pubitemid 32913666)
73. Porcu M, Landis N, Salis S, Corda M, Orrù P, Serra E, Usai B, Matta G, Galanello R. Effects of combined deferiprone and desferrioxamine iron chelating therapy in beta-thalassemia major end-stage heart failure: a case report. Eur J Heart Fail. 2007;9:320-322. (Pubitemid 46330141)
74. Koerner MM, Tenderich G, Minami K, zu Knyphausen E, Mannebach H, Kleesiek K, Meyer H, Koerfer R. Heart transplantation for end-stage heart failure caused by iron overload. Br J Haematol. 1997;97:293-296. (Pubitemid 27224606)
75. Caines AE, Kpodonu J, Massad MG, Chaer R, Evans A, Lee JC, Geha AS. Cardiac transplantation in patients with iron overload. J Heart Lung Transplant. 2005;24:486-488. (Pubitemid 40403808)
76. Olivieri NF, Liu PP, Sher GD, Daly PA, Greig PD, McCusker PJ, Collins AF, Francombe WH, Templeton DM, Butany J. Brief report: combined liver and heart transplantation for end-stage iron-induced organ failure in an adult with homozygous beta-thalassemia. N Engl J Med. 1994;330:1125-1127.