A detailed pathologic examination of heart tissue from three older patients with Anderson - Fabry disease on enzyme replacement therapy

Cardiovascular Pathology

Volumn 19, Issue 5, 2010, Pages 293-301

  Sheppard, Mary N ^a   Cane, Paul ^a   Florio, Richard ^a   Kavantzas, Nicholas ^b   Close, Lydia ^c   Shah, Jaymin ^c   Lee, Philip ^d   Elliott, Perry ^c  

^a ROYAL BROMPTON AND HAREFIELD NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

Anderson Fabry disease; Arrhythmia; Coronary vessels; Enzyme replacement therapy; Left ventricular hypertrophy; Valve disease

Indexed keywords

AGALSIDASE BETA; GLOBOTRIAOSYLCERAMIDE;

ADULT; AGED; AORTA; AORTA VALVE; APOPTOSIS; ARTICLE; CASE REPORT; CELL VACUOLE; CORONARY ARTERY; CORONARY ARTERY CIRCUMFLEX BRANCH; CYTOPLASM; DRUG EFFICACY; ELECTRON MICROSCOPY; ENDOTHELIUM CELL; ENZYME REPLACEMENT; FABRY DISEASE; HEART ATRIUM; HEART DISEASE; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE CELL; HEART MUSCLE FIBROSIS; HEART MUSCLE NECROSIS; HEART RIGHT VENTRICLE HYPERTROPHY; HEART VALVE; HEART VENTRICLE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LYMPHOCYTIC INFILTRATION; MACROPHAGE MIGRATION; MALE; MITRAL VALVE; PRIORITY JOURNAL; SMOOTH MUSCLE FIBER;

AGED; ALPHA-GALACTOSIDASE; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; HEART; HUMANS; ISOENZYMES; MALE; MIDDLE AGED; MYOCARDIUM; RECOMBINANT PROTEINS; TRIHEXOSYLCERAMIDES;

EID: 77956432843     PISSN: 10548807     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.carpath.2009.05.003     Document Type: Article

References (31)

1. Kotanko P, Kramar R, and Devrnja D Results of a nationwide screening for Anderson-Fabry disease among dialysis patients J Am Soc Nephrol 15 5 2004 1323 1329
2. Rolfs A, Bottcher T, and Zschiesche M Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study Lancet 366 9499 2005 1794 1796
3. Nakao S, Takenaka T, and Maeda M An atypical variant of Fabry's disease in men with left ventricular hypertrophy N Engl J Med 333 5 1995 288 293
4. Sachdev B, Takenaka T, and Teraguchi H Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy Circulation 105 12 2002 1407 1411
5. Mehta A, Ricci R, and Widmer U Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey Eur J Clin Invest 34 3 2004 236 242
6. MacDermot KD, Holmes A, and Miners AH Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males J Med Genet 38 11 2001 750 760 (Pubitemid 33032930)
7. MacDermot KD, Holmes A, and Miners AH Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females J Med Genet 38 11 2001 769 775 (Pubitemid 33032933)
8. Linhart A, Kampmann C, and Zamorano JL Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey Eur Heart J 28 10 2007 1228 1235
9. Linhart A, and Elliott PM The heart in Anderson-Fabry disease and other lysosomal storage disorders Heart 93 4 2007 528 535
10. Schiffmann R, Kopp JB, and Austin HA Enzyme replacement therapy in Fabry disease: a randomized controlled trial JAMA 285 21 2001 2743 2749
11. Eng CM, Guffon N, and Wilcox WR Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease N Engl J Med 345 1 2001 9 16
12. Fletcher A, Ho SY, McCarthy KP, and Sheppard MN Spectrum of pathological changes in both ventricles of patients dying suddenly with arrhythmogenic right ventricular dysplasia. Relation of changes to age Histopathology 48 4 2006 445 452
13. Chen QM, and Tu VC Apoptosis and heart failure: mechanisms and therapeutic implications Am J Cardiovasc Drugs 2 1 2002 43 57
14. Linhart A, Palecek T, and Bultas J New insights in cardiac structural changes in patients with Fabry's disease Am Heart J 139 6 2000 1101 1108
15. Kampmann C, Wiethoff CM, and Martin C Electrocardiographic signs of hypertrophy in Fabry disease-associated hypertrophic cardiomyopathy Acta Paediatr Suppl 91 439 2002 21 27
16. Goldman ME, Cantor R, Schwartz MF, Baker M, and Desnick RJ Echocardiographic abnormalities and disease severity in Fabry's disease J Am Coll Cardiol 7 5 1986 1157 1161
17. Elleder M, Bradova V, and Smid F 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 5 1990 449 455
18. Moon JC, Sachdev B, and Elkington AG Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium Eur Heart J 24 23 2003 2151 2155
19. Olivetti G, Abbi R, and Quaini F Apoptosis in the failing human heart N Engl J Med 336 16 1997 1131 1141
20. Crow MT, Mani K, Nam YJ, and Kitsis RN The mitochondrial death pathway and cardiac myocyte apoptosis Circ Res 95 10 2004 957 970
21. Levade T, Auge N, Veldman RJ, Cuvillier O, Negre-Salvayre A, and Salvayre R Sphingolipid mediators in cardiovascular cell biology and pathology Circ Res 89 11 2001 957 968
22. Barbey F, Brakch N, and Linhart A Cardiac and vascular hypertrophy in Fabry disease. Evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition Arterioscler Thromb Vasc Biol 2006
23. Elliott PM, Kindler H, and Shah JS Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A Heart 2005
24. Pochis WT, Litzow JT, King BG, and Kenny D Electrophysiologic findings in Fabry's disease with a short PR interval Am J Cardiol 74 2 1994 203 204
25. Shah JS, Hughes DA, and Sachdev B Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease Am J Cardiol 96 6 2005 842 846
26. Schiffmann R, Floeter MK, and Dambrosia JM Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease Muscle Nerve 28 6 2003 703 710
27. Moore DF, Altarescu G, and Ling GS Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement Stroke 33 2 2002 525 531
28. Beck M, Ricci R, and Widmer U Fabry disease: overall effects of agalsidase alfa treatment Eur J Clin Invest 34 12 2004 838 844
29. Weidemann F, Breunig F, and Beer M Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study Circulation 108 11 2003 1299 1301
30. Spinelli L, Pisani A, and Sabbatini M Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease Clin Genet 66 2 2004 158 165
31. Komamura K, Higashi M, and Yamada N Improvement of cardiac hypertrophy and ventricular function in a man with Fabry disease by treatment with recombinant alpha-galactosidase A Heart 90 6 2004 617