Fabry disease mimicking hypertrophic cardiomyopathy: Genetic screening needed for establishing the diagnosis in women

European Journal of Heart Failure

Volumn 12, Issue 6, 2010, Pages 535-540

  Havndrup, Ole ^a   Christiansen, Michael ^b   Stoevring, Birgitte ^b   Jensen, Morten ^a   Hoffman Bang, Jakob ^b   Andersen, Paal Skytt ^b   Hasholt, Lis ^c   Nørremølle, Anne ^c   Feldt Rasmussen, Ulla ^a   Køber, Lars ^a   Bundgaard, Henning ^a  

^a Rigshospitalet   (Denmark)

^b STATENS SERUM INSTITUT   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Enzyme replacement therapy; Genetics; Myocardial hypertrophy

Indexed keywords

ALPHA GALACTOSIDASE;

ADOLESCENT; ADULT; AGE DISTRIBUTION; AGED; ARTICLE; CHILD; CHRONIC OBSTRUCTIVE LUNG DISEASE; CONTROLLED STUDY; ENZYME ACTIVITY; FABRY DISEASE; FEMALE; GENETIC ASSOCIATION; GENETIC SCREENING; HEART LEFT VENTRICLE OUTFLOW TRACT; HEART VENTRICLE TACHYCARDIA; HETEROZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SARCOMERE; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; ALPHA-GALACTOSIDASE; CARDIOMYOPATHY, HYPERTROPHIC; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FABRY DISEASE; FEMALE; GENETIC TESTING; HUMANS; MALE; MIDDLE AGED; MUTATION; YOUNG ADULT;

EID: 77952962432     PISSN: 13889842     EISSN: 18790844     Source Type: Journal    
DOI: 10.1093/eurjhf/hfq073     Document Type: Article

References (39)

1. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001;38:750-760. (Pubitemid 33032930)
2. Linhart A, Elliott PM. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart 2007;93:528-535.
3. Chimenti C, Pieroni M, Morgante E, Antuzzi D, Russo A, Russo MA, Maseri A, Frustaci A. Prevalence of Fabry disease in female patients with late-onset hyper-trophic cardiomyopathy. Circulation 2004;110:1047-1053.
4. Kampmann C, Baehner F, Whybra C, Martin C, Wiethoff CM, Ries M, Gal A, Beck M. Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol 2002;40:1668-1674.
5. Linhart A, Kampmann C, Zamorano JL, Sunder-Plassmann G, Beck M, Mehta A, Elliott PM. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J 2007;28:1228-1235.
6. Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, Yoshida A, Kuriyama M, Hayashibe H, Sakuraba H. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 1995;333:288-293.
7. Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ, Elliott PM. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002;105:1407-1411.
8. Shah JS, Lee P, Hughes D, Thaman R, Sachdev B, Pellerin D, Mehta A, Elliott PM. The natural history of left ventricular systolic function in Anderson-Fabry disease. Heart 2005;91:533-534. (Pubitemid 40432794)
9. Shah JS, Hughes DA, Sachdev B, Tome M, Ward D, Lee P, Mehta AB, Elliott PM. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol 2005;96:842-846.
10. Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med 2009;11:790-796.
11. Mehta A, Clarke JT, Giugliani R, Elliott P, Linhart A, Beck M, Sunder-Plassmann G. Natural course of Fabry disease: changing pattern of causes of death in FOS\Fabry Outcome Survey. J Med Genet 2009;46:548-552.
12. Morita H, Larson MG, Barr SC, Vasan RS, O'Donnell CJ, Hirschhorn JN, Levy D, Corey D, Seidman CE, Seidman JG, Benjamin EJ. Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation 2006;113:2697-2705.
13. Pieroni M, Chimenti C, De Cobelli F, Morgante E, Del Maschio A, Gaudio C, Russo MA, Frustaci A. Fabry's disease cardiomyopathy: echocardiographic detection of endomyocardial glycosphingolipid compartmentalization. J Am Coll Cardiol 2006;47:1663-1671.
14. Hoigne P, Attenhofer Jost CH, Duru F, Oechslin EN, Seifert B, Widmer U, Frischknecht B, Jenni R. Simple criteria for differentiation of Fabry disease from amyloid heart disease and other causes of left ventricular hypertrophy. Int J Cardiol 2006;111:413-422.
15. Teragaki M, Tanaka A, Akioka K, Lan HT, Nishi Y, Yamano T, Yoshikawa J. Fabry disease female proband with clinical manifestations similar to hypertrophic cardi-omyopathy. Jpn Heart J 2004;45:685-689.
16. Moon JC, Sachdev B, Elkington AG, McKenna WJ, Mehta A, Pennell DJ, Leed PJ, Elliott PM. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myo-cardial interstitium. Eur Heart J 2003;24:2151-2155.
17. Pieroni M, Chimenti C, Russo A, Russo MA, Maseri A, Frustaci A. Tissue Doppler imaging in Fabry disease. Curr Opin Cardiol 2004;19:452-457.
18. Weidemann F, Niemann M, Herrmann S, Kung M, Stork S, Waller C, Beer M, Breunig F, Wanner C, Voelker W, Ertl G, Bijnens B, Strotmann JM. A new echo-cardiographic approach for the detection of non-ischaemic fibrosis in hyper-trophic myocardium. Eur Heart J 2007;24:3020-3026.
19. Maron BJ, McKenna WJ, Danielson GK, Kappenberger LJ, Kuhn HJ, Seidman CE, Shah PM, Spencer WH III, Spirito P, Ten Cate FJ, Wigle ED. American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. J Am Coll Cardiol 2003;42:1687-1713.
20. Cooper LT, Baughman KL, Feldman AM, Frustaci A, Jessup M, Kuhl U, Levine GN, Narula J, Starling RC, Towbin J, Virmani R. The role of endomyocardial biopsy in the management of cardiovascular disease: a scientific statement from the American Heart Association, the American College of Cardiology, and the European Society of Cardiology. Circulation 2007;116:2216-2233.
21. Hughes DA, Elliott PM, Shah J, Zuckerman J, Coghlan G, Brookes J, Mehta AB. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agal-sidase alfa. Heart 2008;94:153-158.
22. Bierer G, Balfe D, Wilcox WR, Mosenifar Z. Improvement in serial cardiopulmon-ary exercise testing following enzyme replacement therapy in Fabry disease. J Inherit Metab Dis 2006;29:572-579.
23. Mehta A, Beck M, Elliott P, Giugliani R, Linhart A, Sunder-Plassmann G, Schiffmann R, Barbey F, Ries M, Clarke JT. Enzyme replacement therapy with agal-sidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet 2009; 374:1986-1996.
24. Weidemann F, Breunig F, Beer M, Sandstede J, Turschner O, Voelker W, Ertl G, Knoll A, Wanner C, Strotmann JM. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 2003;108:1299-1301.
25. Weidemann F, Linhart A, Monserrat L, Strotmann J. Cardiac challenges in patients with Fabry disease. Int J Cardiol 2010;141:3-10.
26. Nagueh SF. Fabry disease. Heart 2003;89:819-820.
27. Bundgaard H, Havndrup O, Andersen PS, Larsen LA, Brandt NJ, Vuust J, Kjeldsen K, Christiansen M. Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain. J Mol Cell Cardiol 1999;31:745-750.
28. Havndrup O, Bundgaard H, Andersen PS, Allan LL, Vuust J, Kjeldsen K, Christiansen M. Outcome of clinical versus genetic family screening in hyper-trophic cardiomyopathy with focus on cardiac beta-myosin gene mutations. Car-diovasc Res 2003;57:347-357.
29. Andersen PS, Havndrup O, Hougs L, Sorensen KM, Jensen M, Larsen LA, Hedley P, Bie Thomsen AR, Moolman-Smook J, Christiansen M, Bundgaard H. Diagnostic yield, interpretation, and clinical utility of mutation screening of sarco-mere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. Hum Mutat 2009;3:363-370.
30. Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W. Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med 1973;81:157-171.
31. Madsen KM, Hasholt L, Sorensen SA, Fermer ML, Dahl N. Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease. Hum Mutat 1995;5:277-278.
32. Shabbeer J, Yasuda M, Benson SD, Desnick RJ. Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum Genomics 2006;2: 297-309.
33. Kleinert J, Dehout F, Schwarting A, de Lorenzo AG, Ricci R, Kampmann C, Beck M, Ramaswami U, Linhart A, Gal A, Houge G, Widmer U, Mehta A, Sunder-Plassmann G. Prevalence of uncontrolled hypertension in patients with Fabry disease. Am J Hypertens 2006;19:782-787. (Pubitemid 44107697)
34. Elliott P, McKenna WJ. Hypertrophic cardiomyopathy. Lancet 2004;363:1881-1891.
35. Eng CM, Ashley GA, Burgert TS, Enriquez AL, D'Souza M, Desnick RJ. Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Mol Med 1997;3:174-182.
36. Ashley GA, Shabbeer J, Yasuda M, Eng CM, Desnick RJ. Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype. J Hum Genet 2001;46:192-196.
37. Rolfs A, Bottcher T, Zschiesche M, Morris P, Winchester B, Bauer P, Walter U, Mix E, Lohr M, Harzer K, Strauss U, Pahnke J, Grossmann A, Benecke R. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005;366:1794-1796.
38. Zarate YA, Hopkin RJ. Fabry's disease. Lancet 2008;372:1427-1435.
39. Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007; 146:77-86.