Progress in Cardiovascular Diseases
Volume 52, Issue 4 , Pages 326-335 , January 2010

Anderson-Fabry Disease and the Heart

References 

  1. Linhart A, Elliott PM. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart. 2007;93:528–535
  2. Zarate YA, Hopkin RJ. Fabry's disease. Lancet. 2008;372:1427–1435
  3. Schafer E, Baron K, Widmer U, et al. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. Hum Mutat. 2005;25:412
  4. Schaefer E, Mehta A, Gal A. Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey. Acta Paediatr Suppl. 2005;94:87–92
  5. Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. J Mol Biol. 2004;337:319–335
  6. 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. 2004;34:236–242
  7. Maier EM, Osterrieder S, Whybra C, et al. Disease manifestations and X inactivation in heterozygous females with Fabry disease. Acta Paediatr Suppl. 2006;95:30–38
  8. Dobrovolny R, Dvorakova L, Ledvinova J, et al. Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. J Mol Med. 2005;83:647–654
  9. Chimenti C, Pieroni M, Morgante E, et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation. 2004;110:1047–1053
  10. Altarescu GM, Goldfarb LG, Park KY, et al. Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. Clin Genet. 2001;60:46–51
  11. Ries M, Moore DF, Robinson CJ, et al. Quantitative dysmorphology assessment in Fabry disease. Genet Med. 2006;8:96–101
  12. Matsuzawa F, Aikawa S, Doi H, et al. Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes. Hum Genet. 2005;117:317–328
  13. Garman SC. Structure-function relationships in alpha-galactosidase A. Acta Paediatr Suppl. 2007;96:6–16
  14. Altarescu G, Moore DF, Schiffmann R. Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology. 2005;64:2148–2150
  15. Safyan R, Whybra C, Beck M, et al. An association study of inflammatory cytokine gene polymorphisms in Fabry disease. Eur Cytokine Netw. 2006;17:271–275
  16. Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA. 1999;281:249–254
  17. Desnick RJ, Eng CM, Ioannou YA. α-Galactosidase A deficiency: Fabry disease. In:  Scriver CR,  Beaudet AL,  Sly WS, et al. editor. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001;p. 37–74
  18. Breunig F, Wanner C. Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy. J Nephrol. 2008;21:32–37
  19. Rolfs A, Bottcher T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet. 2005;366:1794–1796
  20. 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. 1995;333:288–293
  21. Sachdev B, Takenaka T, Teraguchi H, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation. 2002;105:1407–1411
  22. Monserrat L, Gimeno-Blanes JR, Marin F, et al. Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2007;50:2399–2403
  23. Morita H, Larson MG, Barr SC, et al. Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation. 2006;113:2697–2705
  24. Ommen SR, Nishimura RA, Edwards WD. Fabry disease: a mimic for obstructive hypertrophic cardiomyopathy. Heart. 2003;89:929–930
  25. Arad M, Maron BJ, Gorham JM, et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med. 2005;352:362–372
  26. Vedder AC, Strijland A, vd Bergh Weerman MA, et al. Manifestations of Fabry disease in placental tissue. J Inherit Metab Dis. 2006;29:106–111
  27. 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
  28. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001;38:769–775
  29. Schiffmann R, Scott LJ. Pathophysiology and assessment of neuropathic pain in Fabry disease. Acta Paediatr Suppl. 2002;91:48–52
  30. Mohrenschlager M, Henkel V, Ring J. Fabry disease: more than angiokeratomas. Arch Dermatol. 2004;140:1526–1528
  31. Mohrenschlager M, Braun-Falco M, Ring J, et al. Fabry disease: recognition and management of cutaneous manifestations. Am J Clin Dermatol. 2003;4:189–196
  32. Orteu CH, Jansen T, Lidove O, et al. Fabry disease and the skin: data from FOS, the Fabry outcome survey. Br J Dermatol. 2007;157:331–337
  33. Moore DF, Kaneski CR, Askari H, et al. The cerebral vasculopathy of Fabry disease. J Neurol Sci. 2007;257:258–263
  34. Mitsias P, Levine SR. Cerebrovascular complications of Fabry's disease. Ann Neurol. 1996;40:8–17
  35. Frustaci A, Chimenti C, Ricci R, et al. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med. 2001;345:25–32
  36. Elleder M, Bradova V, Smid 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. 1990;417:449–455
  37. Elleder M. Sequelae of storage in Fabry disease—pathology and comparison with other lysosomal storage diseases. Acta Paediatr Suppl. 2003;92:46–53
  38. Lucke T, Hoppner W, Schmidt E, et al. Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts. Mol Genet Metab. 2004;82:93–97
  39. Hirano M, Davidson M, DiMauro S. Mitochondria and the heart. Curr Opin Cardiol. 2001;16:201–210
  40. Linhart A, Kampmann C, Zamorano JL, et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J. 2007;28:1228–1235
  41. Linhart A, Palecek T, Bultas J, et al. New insights in cardiac structural changes in patients with Fabry's disease. Am Heart J. 2000;139:1101–1108
  42. Senechal M, Germain DP. Fabry disease: a functional and anatomical study of cardiac manifestations in 20 hemizygous male patients. Clin Genet. 2003;63:46–52
  43. Linhart A, Lubanda JC, Palecek T, et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis. 2001;24(Suppl 2):75–83
  44. Sheth KJ, Thomas JP. Electrocardiograms in Fabry's disease. J Electrocardiol. 1982;15:153–156
  45. Kampmann C, Wiethoff CM, Whybra C, et al. Cardiac manifestations of Anderson-Fabry disease in children and adolescents. Acta Paediatr. 2008;97:463–469
  46. Rijnbeek PR, Witsenburg M, Schrama E, et al. New normal limits for the paediatric electrocardiogram. Eur Heart J. 2001;22:702–711
  47. Pieroni M, Chimenti C, De Cobelli F, et al. Fabry's disease cardiomyopathy: echocardiographic detection of endomyocardial glycosphingolipid compartmentalization. J Am Coll Cardiol. 2006;47:1663–1671
  48. Kounas S, Demetrescu C, Pantazis AA, et al. The binary endocardial appearance is a poor discriminator of Anderson-Fabry disease from familial hypertrophic cardiomyopathy. J Am Coll Cardiol. 2008;51:2058–2061
  49. Koskenvuo JW, Engblom E, Kantola IM, et al. Echocardiography in Fabry disease: diagnostic value of endocardial border binary appearance. Clin Physiol Funct Imaging. 2009;29:177–180
  50. Palecek T, Dostalova G, Kuchynka P, et al. Right ventricular involvement in Fabry disease. J Am Soc Echocardiogr. 2008;21:1265–1268
  51. Kampmann C, Baehner FA, Whybra C, et al. The right ventricle in Fabry disease. Acta Paediatr Suppl. 2005;94:15–18
  52. Pieroni M, Chimenti C, Ricci R, et al. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation. 2003;107:1978–1984
  53. Shah JS, Lee P, Hughes D, et al. The natural history of left ventricular systolic function in Anderson-Fabry disease. Heart. 2005;91:533–534
  54. Pieroni M, Chimenti C, Russo A, et al. Tissue Doppler imaging in Fabry disease. Curr Opin Cardiol. 2004;19:452–457
  55. Moon JCC, Sachdev B, Elkington AG, et al. Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease: Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J. 2003;24:2151–2155
  56. De Cobelli F, Esposito A, Belloni E, et al. Delayed-enhanced cardiac MRI for differentiation of Fabry's disease from symmetric hypertrophic cardiomyopathy. AJR Am J Roentgenol. 2009;192:W97–102
  57. Moon JC, Sheppard M, Reed E, et al. The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry disease. J Cardiovasc Magn Reson. 2006;8:479–482
  58. Moon JCC, McKenna WJ, McCrohon JA, et al. Toward clinical risk assessment inhypertrophic cardiomyopathy with gadolinium cardiovascular magnetic resonance. J Am Coll Cardiol. 2003;41:1561–1567
  59. 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. 2006;97:1515–1518
  60. Kawano M, Takenaka T, Otsuji Y, et al. Significance of asymmetric basal posterior wall thinning in patients with cardiac Fabry's disease. Am J Cardiol. 2007;99:261–263
  61. Pochis WT, Litzow JT, King BG, et al. Electrophysiologic findings in Fabry's disease with a short PR interval. Am J Cardiol. 1994;74:203–204
  62. Lobo T, Morgan J, Bjorksten A, et al. Cardiovascular testing in Fabry disease: exercise capacity reduction, chronotropic incompetence and improved anaerobic threshold after enzyme replacement. Intern Med J. 2008;38:407–414
  63. Shah JS, Hughes DA, Sachdev B, et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol. 2005;96:842–846
  64. Frustaci A, Chimenti C. Images in cardiovascular medicine. Cryptogenic ventricular arrhythmias and sudden death by Fabry disease: prominent infiltration of cardiac conduction tissue. Circulation. 2007;116:e350–e351
  65. Eckart RE, Kinney KG, Belnap CM, et al. Ventricular fibrillation refractory to automatic internal cardiac defibrillator in Fabry's disease. Review of cardiovascular manifestations. Cardiology. 2000;94:208–212
  66. Weidemann F, Strotmann JM, Niemann M, et al. Heart valve involvement in Fabry cardiomyopathy. Ultrasound Med Biol. 2009;35:730–735
  67. Kovarnik T, Mintz GS, Karetova D, et al. Intravascular ultrasound assessment of coronary artery involvement in Fabry disease. J Inherit Metab Dis. 2008;31:753–760
  68. Elliott PM, Kindler H, Shah JS, et al. Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A. Heart. 2006;92:357–360
  69. Hughes DA, Mehta AB. Vascular complications of Fabry disease: enzyme replacement and other therapies. Acta Paediatr Suppl. 2005;94:28–33
  70. Chimenti C, Morgante E, Critelli G, et al. Coronary artery bypass grafting for Fabry's disease: veins more suitable than arteries. Hum Pathol. 2007;38:1864–1867
  71. Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138:338–346
  72. Magage S, Linhart A, Bultas J, et al. Fabry disease: percutaneous transluminal septal myocardial ablation markedly improved symptomatic left ventricular hypertrophy and outflow tract obstruction in a classically affected male. Echocardiography. 2005;22:333–339
  73. Maron BJ, McKenna WJ, Danielson GK, et al. 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. Eur Heart J. 2003;24:1965–1991
  74. Cantor WJ, Daly P, Iwanochko M, et al. Cardiac transplantation for Fabry's disease. Can J Cardiol. 1998;14:81–84
  75. Baritussio A, Marzini S, Agostini M, et al. Amiodarone inhibits lung degradation of SP-A and perturbs the distribution of lysosomal enzymes. Am J Physiol Lung Cell Mol Physiol. 2001;281:L1189–L1199
  76. Epstein AE, DiMarco JP, Ellenbogen KA, et al. ACC/AHA/HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities: A Report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices): Developed in Collaboration With the American Association for Thoracic Surgery and Society of Thoracic Surgeons. Circulation. 2008;117:e350–e408
  77. Linthorst GE, Hollak CE, Donker-Koopman WE, et al. Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int. 2004;66:1589–1595
  78. Benichou B, Goyal S, Sung C, et al. A retrospective analysis of the potential impact of IgG antibodies to agalsidase beta on efficacy during enzyme replacement therapy for Fabry disease. Mol Genet Metab. 2009;96:4–12
  79. Eng CM, Banikazemi M, Gordon RE, et al. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet. 2001;68:711–722
  80. Hughes DA, Elliott PM, Shah J, et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart. 2008;94:153–158
  81. Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med. 2001;345:9–16
  82. Schiffmann R, Kopp JB, Austin HA, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA. 2001;285:2743–2749
  83. Baehner F, Kampmann C, Whybra C, et al. Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study. J Inherit Metab Dis. 2003;26:617–627
  84. Beck M, Ricci R, Widmer U, et al. Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest. 2004;34:838–844
  85. 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. 2009;95:1103–1107
  86. 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. 2003;108:1299–1301
  87. 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. 2009;119:524–529
  88. Breunig F, Weidemann F, Strotmann J, et al. Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int. 2006;69:1216–1221
  89. Koskenvuo JW, Hartiala JJ, Nuutila P, et al. Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters. J Inherit Metab Dis. 2008;31:432–441
  90. Kalliokoski RJ, Kantola I, Kalliokoski KK, et al. The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease. J Inherit Metab Dis. 2006;29:112–118

 Statement of Conflict of Interest: see page 332.

PII: S0033-0620(09)00092-9

doi: 10.1016/j.pcad.2009.11.002

Progress in Cardiovascular Diseases
Volume 52, Issue 4 , Pages 326-335 , January 2010