Cardiac challenges in patients with Fabry disease

International Journal of Cardiology

Volumn 141, Issue 1, 2010, Pages 3-10

  Weidemann, F ^a   Linhart, A ^b   Monserrat, L ^c   Strotmann, J ^a  

^a Center of Cardiovascular Medicine   (Germany)

^b CHARLES UNIVERSITY   (Czech Republic)

^c HOSPITAL JUAN CANALEJO   (Spain)

Author keywords

Cardiac fibrosis; Cardiomyopathy; Fabry disease

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ALPHA GALACTOSIDASE; ANGIOTENSIN RECEPTOR ANTAGONIST; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; PLACEBO;

ARTIFICIAL HEART PACEMAKER; CARDIOVASCULAR RISK; CLINICAL FEATURE; CLINICAL TRIAL; COMBINATION CHEMOTHERAPY; DEFIBRILLATOR; DISEASE COURSE; DOSE RESPONSE; DRUG DOSE COMPARISON; DRUG EFFICACY; ENZYME ASSAY; ENZYME REPLACEMENT; FABRY DISEASE; FAMILY ASSESSMENT; FUNCTIONAL MORPHOLOGY; GENE MAPPING; GENE MUTATION; GENETIC SCREENING; HEART FUNCTION; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE FIBROSIS; HUMAN; HYPERTENSION; HYPERTROPHIC CARDIOMYOPATHY; LABORATORY TEST; PATHOPHYSIOLOGY; PATIENT IDENTIFICATION; PATIENT SELECTION; PRIORITY JOURNAL; REVIEW; SCREENING TEST; TACHYCARDIA; TREATMENT DURATION; TREATMENT OUTCOME; TREATMENT RESPONSE;

CARDIOMYOPATHY, HYPERTROPHIC; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; FEMALE; HUMANS; MALE;

EID: 77951665982     PISSN: 01675273     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijcard.2009.08.002     Document Type: Review

References (76)

1. Desnick R.J., Ioannou Y.A., and Eng C.M. a-Galactosidase a deficiency: Fabry disease. In: Scriver C.R., Beaudet A.L., and Sly W.S. (Eds). The metabolic and molecular bases of inherited disease (2001), McGraw-Hill, New York 3733-3774
2. Wilcox W.R., Oliveira J.P., Hopkin R.J., et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 93 (2008) 112-128
3. Linhart A., Kampmann C., Zamorano J.L., et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry Outcome Survey. Eur Heart J 28 (2007) 1228-1235
4. Eng C.M., Guffon N., Wilcox W.R., et al. Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 345 (2001) 9-16
5. Eng C.M., Banikazemi M., Gordon R.E., et al. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 68 (2001) 711-722
6. Thurberg B.L., Rennke H., Colvin R.B., et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 62 (2002) 1933-1946
7. Germain D.P., Waldek S., Banikazemi M., et al. Sustained, long-term renal stabilization after 54 months of agalsidase β therapy in patients with Fabry disease. J Am Soc Nephrol 18 (2007) 1547-1557
8. Banikazemi M., Bultas J., Waldek S., et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 146 (2007) 77-86
9. Schiffmann R., Kopp J.B., Austin III H.A., et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285 (2001) 2743-2749
10. Schiffmann R., Ries M., Timmons M., Flaherty J.T., and Brady R.O. Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 21 (2006) 345-354
11. Schiffmann R., Askari H., Timmons M., et al. Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. J Am Soc Nephrol 18 (2007) 1576-1583
12. Eng C.M., Germain D.P., Banikazemi M., et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 8 (2006) 539-548
13. Weidemann F., Niemann M., Breunig F., et al. Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation 119 (2009) 524-529
14. Weidemann F., Breunig F., Beer M., et al. The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. Eur Heart J 26 (2005) 1221-1227
15. Strotmann J., Weidemann F., Breunig F., Knoll A., Wanner C., and Ertl G. Morbus Fabry of the heart. Why should cardiologists care?. Z Kardiol 94 (2005) 557-563
16. Strotmann J., Breunig F., Wanner C., and Weidemann F. Progression of Fabry cardiomyopathy. Clin Ther 29 Suppl A (2007) S13-S14
17. Sachdev B., Takenaka T., Teraguchi H., et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 105 (2002) 1407-1411
18. Nakao S., Takenaka T., Maeda M., et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333 (1995) 288-293
19. Chimenti C., Pieroni M., Morgante E., et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation 110 (2004) 1047-1053
20. Elleder M., Bradová V., Smíd F., et al. Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol 417 (1990) 449-455
21. Ogawa K., Sugamata K., Funamoto N., et al. Restricted accumulation of globotriaosylceramide in the hearts of atypical cases of Fabry's disease. Hum Pathol 21 (1990) 1067-1073
22. von Scheidt W., Eng C.M., Fitzmaurice T.F., et al. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 324 (1991) 395-399
23. Kampmann C., Linhart A., Baehner F., et al. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int J Cardiol 130 (2008) 367-373
24. Barbey F., Brakch N., Linhart A., et al. Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscler Thromb Vasc Biol 26 (2006) 839-844
25. Aerts J.M., Groener J.E., Kuiper S., et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci USA 105 (2008) 2812-2817
26. Shen J.S., Meng X.L., Moore D.F., et al. Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab 95 (2008) 163-168
27. Ashrafian H., Redwood C., Blair E., and Watkins H. Hypertrophic cardiomyopathy: a paradigm for myocardial energy depletion. Trends Genet 19 (2003) 263-268
28. Jung W.I., Sieverding L., Breuer J., et al. 31P NMR spectroscopy detects metabolic abnormalities in asymptomatic patients with hypertrophic cardiomyopathy. Circulation 97 (1998) 2536-2542
29. Lücke T., Höppner W., Schmidt E., Illsinger S., and Das A.M. Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts. Mol Genet Metab 82 (2004) 93-97
30. Holland WW, Stewart S, Masseria C. Policy brief: screening in Europe. European Observatory on Health Systems and Policies, and World Health Organization, 2006. Available at: http://www.euro.who.int/Document/E88698.pdf (accessed 18 Sept 2008).
31. Eng C.M., Fletcher J., Wilcox W.R., et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 30 (2007) 184-192
32. Mehta A., Ricci R., Widmer U., et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34 (2004) 236-242
33. Kampmann C., Wiethoff C.M., Martin C., et al. Electrocardiographic signs of hypertrophy in Fabry disease-associated hypertrophic cardiomyopathy. Acta Paediatr Suppl 91 (2002) 21-27
34. Monserrat L., Gimeno-Blanes J.R., Marín F., et al. Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 50 (2007) 2399-2403
35. Merta M., Reiterova J., Ledvinova J., et al. A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol Dial Transplant 22 (2007) 179-186
36. Laney D.A., and Fernhoff P.M. Diagnosis of Fabry disease via analysis of family history. J Genet Couns 17 (2008) 79-83
37. Linhart A., Lubanda J.C., Palecek T., et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis 24 Suppl 2 (2001) 75-83
38. Keren A., Syrris P., and McKenna W.J. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat Clin Pract Cardiovasc Med 5 (2008) 158-168 Erratum in: Nat Clin Pract Cardiovasc Med 2008;5:747
39. Arad M., Maron B.J., Gorham J.M., et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 352 (2005) 362-372
40. Ommen S.R., Nishimura R.A., and Edwards W.D. Fabry disease: a mimic for obstructive hypertrophic cardiomyopathy?. Heart 89 (2003) 929-930
41. François J. Cornea verticillata. Doc Ophthalmol 27 (1969) 235-251
42. Nagao Y., Nakashima H., Fukuhara Y., et al. Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of alpha-galactosidase A. Clin Genet 39 (1991) 233-237
43. Andrade J., Waters P.J., Singh R.S., et al. Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test. Clin J Am Soc Nephrol 3 (2008) 139-145
44. Linthorst G.E., Vedder A.C., Aerts J.M., and Hollak C.E. Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta 353 (2005) 201-203
45. Shabbeer J., Robinson M., and Desnick R.J. Detection of alpha-galactosidase A mutations causing Fabry disease by denaturing high performance liquid chromatography. Hum Mutat 25 (2005) 299-305
46. Rasaiah V.I., Underwood J.P., Oreopoulos D.G., and Medin J.A. Implementation of high-throughput screening for Fabry disease in Toronto dialysis patients. NDT Plus 1 (2008) 129-130 10.1093/ndtplus/sfn009
47. Froissart R., Guffon N., Vanier M.T., Desnick R.J., and Maire I. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. Mol Genet Metab 80 (2003) 307-314
48. Lukacs Z., Keil A., Kohlschütter A., Beck M., and Mengel E. The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients. J Inherit Metab Dis 28 (2005) 803-805
49. Lukacs Z., Hartung R., Beck M., Keil A., and Mengel E. Direct comparison of enzyme measurements from dried blood and leukocytes from male and female Fabry disease patients. J Inherit Metab Dis 30 (2007) 614
50. Chamoles N.A., Blanco M., and Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta 308 (2001) 195-196
51. Young E., Mills K., Morris P., et al. Is globotriaosylceramide a useful biomarker in Fabry disease?. Acta Paediatr Suppl 94 (2005) 51-54 discussion 37-8
52. Auray-Blais C., Cyr D., and Drouin R. Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules. J Inherit Metab Dis 30 4 (2007 Aug) 515-521
53. Rozenfeld P.A., Tarabuso A., Ebner R., Ramallo G., and Fossati C.A. A successful approach for the detection of Fabry patients in Argentina. Clin Genet 69 (2006) 344-348
54. Spinelli L., Pisani A., Sabbatini M., et al. Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease. Clin Genet 66 (2004) 158-165
55. Weidemann F., Breunig F., Beer M., et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 108 (2003) 1299-1301
56. Imbriaco M., Pisani A., Spinelli L., et al. Effects of enzyme replacement therapy in patients with Anderson-Fabry disease: a prospective long term cardiac magnetic resonance imaging study. Heart (Apr 15 2009) Epub ahead of print
57. Hughes D.A., Elliott P.M., Shah J., et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomized, double-blind, placebo-controlled clinical trial of agalsidase-alfa. Heart 94 (2008) 153-158
58. Bierer G., Balfe D., Wilcox W.R., and Mosenifar Z. Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry disease. J Inherit Metab Dis 29 (2006) 572-579
59. Pisani A., Spinelli L., Sabbatini M., et al. Enzyme replacement therapy in Fabry disease patients undergoing dialysis: effects on quality of life and organ involvement. Am J Kidney Dis 46 (2005) 120-127
60. Breunig F., Weidemann F., Strotmann J., Knoll A., and Wanner C. Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int 69 (2006) 1216-1221
61. Kalliokoski R.J., Kantola I., Kalliokoski K.K., et al. The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease. J Inherit Metab Dis 29 (2006) 112-118
62. Elliott P.M., Kindler H., Shah J.S., et al. Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A. Heart 92 (2006) 357-360
63. Beck M., Ricci R., Widmer U., et al. Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest 34 (2004) 838-844
64. Vedder A.C., Linthorst G.E., Houge G., et al. Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS ONE 2 (2007) e598
65. Vedder A.C., Breunig F., Donker-Koopman W.E., et al. Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol Genet Metab 94 (2008) 319-325
66. Ohashi T., Iizuka S., Ida H., and Eto Y. Reduced alpha-Gal A enzyme activity in Fabry fibroblast cells and Fabry mice tissues induced by serum from antibody positive patients with Fabry disease. Mol Genet Metab 94 (2008) 313-318
67. Moon J.C., Sachdev B., Elkington A.G., et al. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 24 (2003) 2151-2155
68. Hasegawa H., Takano H., Shindo S., et al. Images in cardiovascular medicine. Transition from left ventricular hypertrophy to massive fibrosis in the cardiac variant of Fabry disease. Circulation 113 (2006) e720-e721
69. Shah J.S., Hughes D.A., Tayebjee M.H., MacFadyen R.J., Mehta A.B., and Elliott P.M. Extracellular matrix turnover and disease severity in Anderson-Fabry disease. J Inherit Metab Dis 30 (2007) 88-95
70. Takenaka T., Teraguchi H., Yoshida A., et al. Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study. J Cardiol 51 (2008) 50-59
71. Kovacevic-Preradovic T., Zuber M., Attenhofer Jost C.H., et al. Anderson-Fabry disease: long-term echocardiographic follow-up under enzyme replacement therapy. Eur J Echocardiogr 9 (2008) 729-735
72. Beer M., Weidemann F., Breunig F., et al. Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy. Am J Cardiol 97 (2006) 1515-1518
73. Pieroni M., Chimenti C., Ricci R., Sale P., Russo M.A., and Frustaci A. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation 107 (2003) 1978-1984
74. Toro R., Perez-Isla L., Doxastaquis G., et al. Clinical usefulness of tissue Doppler imaging in predicting preclinical Fabry cardiomyopathy. Int J Cardiol 132 (2009) 38-44
75. Weidemann F., Niemann M., Herrmann S., et al. A new echocardiographic approach for the detection of non-ischaemic fibrosis in hypertrophic myocardium. Eur Heart J 28 (2007) 3020-3026
76. Coats A.J. Ethical authorship and publishing. Int J Cardiol 131 (2009) 149-150