When should cardiologists suspect anderson-fabry disease?

American Journal of Cardiology

Volumn 106, Issue 10, 2010, Pages 1492-1499

  Gambarin, Fabiana I ^a   Disabella, Eliana ^a   Narula, Jagat ^b   Diegoli, Marta ^a   Grasso, Maurizia ^a   Serio, Alessandra ^a   Favalli, B M E Valentina ^a   Agozzino, Manuela ^a   Tavazzi, Luigi ^c   Fraser, Alan G ^d   Arbustini, Eloisa ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c Research Ettore Sansavini Health Science Foundation   (Italy)

^d CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ALPHA GALACTOSIDASE; GLOBOTRIAOSYLCERAMIDE;

ADULT; ARTICLE; CARDIOLOGIST; CORNEA LESION; DIFFERENTIAL DIAGNOSIS; DISEASE TRANSMISSION; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; ELECTRON MICROSCOPY; ENZYME ACTIVITY; ENZYME REPLACEMENT; FABRY DISEASE; FEMALE; GASTROINTESTINAL SYMPTOM; GENETIC SCREENING; HEART ELECTROPHYSIOLOGY; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE BIOPSY; HEART MUSCLE CELL; HEART SUPRAVENTRICULAR ARRHYTHMIA; HEART VENTRICLE ARRHYTHMIA; HEMIZYGOSITY; HETEROZYGOSITY; HUMAN; KIDNEY FAILURE; MAJOR CLINICAL STUDY; MALE; NERVOUS SYSTEM INJURY; PRIORITY JOURNAL; QRS COMPLEX; SKIN MANIFESTATION;

EID: 78149462203     PISSN: 00029149     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.amjcard.2010.07.016     Document Type: Review

References (55)

1. R.J. Mesick, Y.A. Ionone, and C.M. Eng Galactosidase A deficiency: Fabry disease C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, K.E. Kinzler, B. Vogelstein, The Metabolic and Molecular Bases of Inherited Disease 8th ed. 2001 McGraw-Hill New York 3733 3774
2. A. Mehta, R. Ricci, U. Widmer, F. Dehout, A. Garcia de Lorenzo, C. Kampmann, A. Linhart, G. Sunder-Plassmann, M. Ries, and M. Beck Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey Eur J Clin Invest 34 2004 236 242
3. Y.A. Zarate, and R.J. Hopkin Fabry's disease Lancet 372 2008 1427 1435
4. E. Schaefer, A. Mehta, and A. Gal Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey Acta Paediatr Suppl 94 2005 87 92
5. S.H. Morgan, and M.A. Crawfurd Anderson-Fabry disease Br Med J 297 1988 872 873
6. G. Beer, P. Reinecke, H.E. Gabbert, W. Hort, and H. Kuhn Fabry disease in patients with hypertrophic cardiomyopathy (HCM) Z Kardiol 91 2002 992 1002
7. B. Pierre-Louis, A. Kumar, and W.H. Frishman Fabry disease: cardiac manifestations and therapeutic options Cardiol Rev 17 2009 31 35
8. R. Torra Renal manifestations in Fabry disease and therapeutic options Kidney Int Suppl 111 2008 S29 S32
9. N. Samiy Ocular features of Fabry disease: diagnosis of a treatable life-threatening disorder Surv Ophthalmol 53 2008 416 423
10. U. Ramaswami Fabry disease during childhood: clinical manifestations and treatment with agalsidase alfa Acta Paediatr Suppl 97 2008 38 40
11. J. Strotmann, F. Breunig, C. Wanner, and F. Weidemann Progression of Fabry cardiomyopathy Clin Ther 29 suppl 2007 S13 S14
12. C.L. Marchesoni, N. Roa, A.M. Pardal, P. Neumann, G. Cceres, P. Martnez Bioch, I. Kisinovsky, S. Bianchi, A.L. Tarabuso, and R.C. Reisin Misdiagnosis in Fabry disease J Pediatrics 156 2010 828 831
13. S. Eshaghian, S. Kaul, and P.K. Shah Cardiac amyloidosis: new insights into diagnosis and management Rev Cardiovasc Med 8 2007 189 199
14. M. Ries, S. Gupta, D.F. Moore, V. Sachdev, J.M. Quirk, G.J. Murray, D.R. Rosing, C. Robinson, E. Schaefer, A. Gal, J.M. Dambrosia, S.C. Garman, R.O. Brady, and R. Schiffmann Pediatric Fabry disease Pediatrics 115 2005 e344 e355
15. D.F. Dickinson The normal ECG in childhood and adolescence Heart 91 2005 1626 1630
16. M. O'Connor, N. McDaniel, and W.J. Brady The pediatric electrocardiogram: part I: age-related interpretation Am J Emerg Med 26 2008 506 512
17. J. Mehta, N. Tuna, J.H. Moller, and R.J. Desnick Electrocardiographic and vectorcardiographic abnormalities in Fabry's disease Am Heart J 93 1977 699 705
18. M. Jastrzebski, B. Bacior, P.P. Dimitrow, and K. Kawecka-Jaszcz Electrophysiological study in a patient with Fabry disease and a short PQ interval Europace 8 2006 1045 1047
19. M. Senechal, and D.P. Germain Fabry disease: a functional and anatomical study of cardiac manifestations in 20 hemizygous male patients Clin Genet 63 2003 46 52
20. K.J. Sheth, and J.P. Thomas Jr Electrocardiograms in Fabry's disease J Electrocardiol 15 1982 153 156
21. J.S. Shah, D.A. Hughes, B. Sachdev, M. Tome, D. Ward, P. Lee, A.B. Mehta, and P.M. Elliott Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease Am J Cardiol 96 2005 842 846
22. C. Kampmann, C.M. Wiethoff, C. Whybra, F.A. Baehner, E. Mengel, and M. Beck Cardiac manifestations of Anderson-Fabry disease in children and adolescents Acta Paediatr 97 2008 463 469
23. A. Blum, H. Ashkenazi, I. Haromankov, K. Khazim, and J. Sheiman First-degree atrioventricular block and restrictive physiology as cardiac manifestations of Fabry's disease South Med J 96 2003 212 213
24. Y. Ikari, K. Kuwako, and T. Yamaguchi Fabry's disease with complete atrioventricular block: histological evidence of involvement of the conduction system Br Heart J 68 1992 323 325
25. A. Linhart, T. Palecek, J. Bultas, J.J. Ferguson, J. Hrudov, D. Karetov, J. Zeman, J. Ledvinov, H. Poupetov, M. Elleder, and M. Aschermann New insights in cardiac structural changes in patients with Fabry's disease Am Heart J 139 2000 1101 1108
26. T. Takenaka, H. Teraguchi, A. Yoshida, S. Taguchi, K. Ninomiya, Y. Umekita, H. Yoshida, M. Horinouchi, K. Tabata, S. Yonezawa, M. Yoshimitsu, K. Higuchi, S. Nakao, R. Anan, S. Minagoe, and C. Tei Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study J Cardiol 51 2008 50 59
27. C. Kampmann, C.M. Wiethoff, C. Martin, A. Wenzel, R. Kampmann, C. Whybra, E. Miebach, and M. Beck Electrocardiographic signs of hypertrophy in Fabry disease-associated hypertrophic cardiomiopathy Acta Paediatr Suppl 439 2002 21 27
28. A. Sacchetti, V. Moyer, R. Baricella, J. Cameron, and M.E. Moakes Primary cardiac arrhythmias in children Pediatr Emerg Care 15 1999 95 98
29. A. Frustaci, and C. Chimenti Images in cardiovascular medicine Cryptogenic ventricular arrhythmias and sudden death by Fabry disease: prominent infiltration of cardiac conduction tissue Circulation 116 2007 e350 e351
30. R. Schiffmann, D.G. Warnock, M. Banikazemi, J. Bultas, G.E. Linthorst, S. Packman, S.A. Sorensen, W.R. Wilcox, and R.J. Desnick Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy Nephrol Dial Transplant 24 2009 2102 2111
31. M. Pieroni, C. Chimenti, R. Ricci, P. Sale, M.A. Russo, and A. Frustaci Early detection of Fabry cardiomyopathy by tissue Doppler imaging Circulation 107 2003 1978 1984
32. C. Kampmann, F. Baehner, C. Whybra, C. Martin, C.M. Wiethoff, M. Ries, A. Gal, and M. Beck Cardiac manifestations of Anderson-Fabry disease in heterozygous females J Am Coll Cardiol 40 2002 1668 1674
33. C. Kampmann, A. Linhart, F. Baehner, T. Palecek, C.M. Wiethoff, E. Miebach, C. Whybra, A. Gal, J. Bultas, and M. Beck Onset and progression of the Anderson-Fabry disease related cardiomyopathy Int J Cardiol 130 2008 367 373
34. L. Monserrat, J.R. Gimeno-Blanes, F. Marn, M. Hermida-Prieto, A. Garca-Honrubia, I. Prez, X. Fernndez, R. de Nicolas, G. de la Morena, E. Pay, J. Yage, and J. Egido Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy J Am Coll Cardiol 50 2007 2399 2403
35. S. Nakao, T. Takenaka, M. Maeda, C. Kodama, A. Tanaka, M. Tahara, A. Yoshida, M. Kuriyama, H. Hayashibe, and H. Sakuraba An atypical variant of Fabry's disease in men with left ventricular hypertrophy N Engl J Med 333 1995 288 293
36. B. Sachdev, T. Takenaka, H. Teraguchi, C. Tei, P. Lee, W.J. McKenna, and P.M. Elliott Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy Circulation 105 2002 1407 1411
37. M. Cikes, G.R. Sutherland, L.J. Anderson, and B.H. Bijnens Medscape The role of echocardiographic deformation imaging in hypertrophic myopathies Nat Rev Cardiol 7 2010 384 396
38. A.B. Weisse Mitral valve prolapse: now you see it; now you don't: recalling the discovery, rise and decline of a diagnosis Am J Cardiol 99 2007 129 133
39. A. Linhart, and P.M. Elliott The heart in Anderson-Fabry disease and other lysosomal storage disorders Heart 93 2007 528 535
40. R. Toro, L. Perez-Isla, G. Doxastaquis, M.A. Barba, A.R. Gallego, G. Pintos, F.J. Barbados, A. Mangas, and J.L. Zamorano Clinical usefulness of tissue Doppler imaging in predicting preclinical Fabry cardiomyopathy Int J Cardiol 132 2009 38 44
41. W.T. Pochis, J.T. Litzow, B.G. King, and D. Kenny Electrophysiologic findings in Fabry's disease with a short PR interval Am J Cardiol 74 1994 203 204
42. A. Aryana, M.A. Fifer, J.N. Ruskin, and T. Mela Short PR interval in the absence of preexcitation: a characteristic finding in a patient with Fabry disease Pacing Clin Electrophysiol 31 2008 782 783
43. J.C. Moon, B. Sachdev, A.G. Elkington, W.J. McKenna, A. Mehta, D.J. Pennell, P.J. Leed, and P.M. Elliott 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
44. F. De Cobelli, A. Esposito, E. Belloni, M. Pieroni, G. Perseghin, C. Chimenti, A. Frustaci, and A. Del Maschio Delayed-enhanced cardiac MRI for differentiation of Fabry's disease from symmetric hypertrophic cardiomyopathy AJR Am J Roentgenol 192 2009 W97 W102
45. J.C. Moon, M. Sheppard, E. Reed, P. Lee, P.M. Elliott, and D.J. Pennell The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry disease J Cardiovasc Magn Reson 8 2006 479 482
46. P.M. Elliott, H. Kindler, J.S. Shah, B. Sachdev, O.E. Rimoldi, R. Thaman, M.T. Tome, W.J. McKenna, P. Lee, and P.G. Camici Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A Heart 92 2006 357 360
47. V.A. Manohar, K.G. Moder, W.D. Edwards, and K. Klarich Restrictive cardiomyopathy secondary to hydroxychloroquine therapy J Rheumatol 36 2009 440 441
48. R.L. Bennett, K.A. Hart, E. O'Rourke, J.A. Barranger, J. Johnson, K.D. MacDermot, G.M. Pastores, R.D. Steiner, and R. Thadhani Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors J Genet Counsel 11 2002 121 146
49. European Society of Human Genetics Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics Eur J Hum Genet 17 2009 720 721
50. B.L. Thurberg, J.T. Fallon, R. Mitchell, T. Aretz, R.E. Gordon, and M.W. O'Callaghan Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy Circulation 119 2009 2561 2567
51. L.M. Buja Evaluation of recombinant alpha-galactosidase A therapy for amelioration of the cardiovascular manifestations of Fabry disease: an important role for endomyocardial biopsy Circulation 119 2009 2539 2541
52. A. Mehta, M. Beck, P. Elliott, R. Giugliani, A. Linhart, G. Sunder-Plassmann, R. Schiffmann, F. Barbey, M. Ries, and J.T. Clarke Fabry Outcome Survey investigators Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data Lancet 374 2009 1986 1996
53. M. Beck Agalsidase alfa for the treatment of Fabry disease: new data on clinical efficacy and safety Expert Opin Biol Ther 9 2009 255 261
54. M. West, K. Nicholls, A. Mehta, J.T. Clarke, R. Steiner, M. Beck, B.A. Barshop, W. Rhead, R. Mensah, M. Ries, and R. Schiffmann Agalsidase alfa and kidney dysfunction in Fabry disease J Am Soc Nephrol 20 2009 1132 1139
55. M. Banikazemi, J. Bultas, S. Waldek, W.R. Wilcox, C.B. Whitley, M. McDonald, R. Finkel, S. Packman, D.G. Bichet, D.G. Warnock, R.J. Desnick Fabry Disease Clinical Trial Study Group Agalsidase-beta therapy for advanced Fabry disease: a randomized trial Ann Intern Med 146 2007 77 86