Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: Data from the Fabry Registry

Genetics in Medicine

Volumn 15, Issue 12, 2013, Pages 958-965

  Germain, Dominique P ^a   Weidemann, Frank ^b   Abiose, Ademola ^c   Patel, Manesh R ^d   Cizmarik, Marta ^e   Cole, J Alexander ^e   Beitner Johnson, Dana ^e   Benistan, Karelle ^a   Cabrera, Gustavo ^f   Charrow, Joel ^g   Kantola, Ilkka ^h   Linhart, Ales ⁱ   Nicholls, Kathy ^j   Niemann, Markus ^b   Scott, C Ronald ^k   Sims, Katherine ^l   Waldek, Stephen ^m   Warnock, David G ⁿ   Strotmann, Jörg ^o  

^a LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c North Ohio Heart Center   (United States)

^d DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e GENZYME CORPORATION   (United States)

^f Centro Médico Del Viso   (Argentina)

^g CHILDREN'S MEMORIAL HOSPITAL   (United States)

^h TURKU UNIVERSITY HOSPITAL   (Finland)

ⁱ CHARLES UNIVERSITY   (Czech Republic)

^j ROYAL MELBOURNE HOSPITAL   (Australia)

^k UNIVERSITY OF WASHINGTON   (United States)

^l MASSACHUSETTS GENERAL HOSPITAL   (United States)

^m Independent Consultant   (United Kingdom)

ⁿ UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^o KLINIKUM BRAUNSCHWEIG   (Germany)

more..

Author keywords

cardiomyopathy; enzyme replacement therapy; Fabry disease; lysosomal storage diseases; recombinant a galactosidase A

Indexed keywords

AGALSIDASE BETA;

ARTICLE; CARDIOMYOPATHY; FABRY DISEASE; HEART LEFT VENTRICLE HYPERTROPHY; HEART LEFT VENTRICLE MASS; HUMAN; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; MALE; REGISTER;

ADOLESCENT; ADULT; AGED; ALPHA-GALACTOSIDASE; DISEASE PROGRESSION; FABRY DISEASE; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; ISOENZYMES; LONGITUDINAL STUDIES; MALE; MIDDLE AGED; MULTIVARIATE ANALYSIS; REGISTRIES; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84890062446     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.53     Document Type: Article

References (31)

1. Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase a deficiency: Fabry disease. In: Scriver C, Beaudet A, Sly W, Valle D (eds). The Metabolic Bases of Inherited Disease, 8th edn. McGraw-Hill: New York, 2001:3733-3774
2. Germain DP. Fabry disease. Orphanet J Rare Dis 2010;5:30
3. Hopkin RJ, Bissler J, Banikazemi M, et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 2008;64:550-555
4. Schiffmann R, Warnock DG, Banikazemi M, et al. Fabry disease: Progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009;24:2102-2111
5. Wilcox WR, Oliveira JP, Hopkin RJ, et al. Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry. Mol Genet Metab 2008;93:112-128
6. Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: Natural history data from the Fabry Registry. Stroke 2009;40:788-794
7. Ortiz A, Cianciaruso B, Cizmarik M, et al. End-stage renal disease in patients with Fabry disease: Natural history data from the Fabry Registry. Nephrol Dial Transplant 2010;25:769-775
8. 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
9. Boutouyrie P, Laurent S, Laloux B, Lidove O, Grunfeld JP, Germain DP. Arterial remodelling in Fabry disease. Acta Paediatr Suppl 2002;91:62-66
10. Pierre-Louis B, Kumar A, Frishman WH. Fabry disease: Cardiac manifestations and therapeutic options. Cardiol Rev 2009;17:31-35
11. 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
12. Weidemann F, Strotmann JM, Niemann M, et al. Heart valve involvement in Fabry cardiomyopathy. Ultrasound Med Biol 2009;35:730-735
13. Patel MR, Cecchi F, Cizmarik M, et al. Cardiovascular events in patients with fabry disease natural history data from the Fabry registry. J Am Coll Cardiol 2011;57:1093-1099
14. Eng CM, Guffon N, Wilcox WR, et al.; International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 2001;345:9-16
15. Germain DP, Waldek S, Banikazemi M, et al. Sustained, long-Term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 2007;18:1547-1557
16. Banikazemi M, Bultas J, Waldek S, et al.; Fabry Disease Clinical Trial Study Group. Agalsidase-beta therapy for advanced Fabry disease: A randomized trial. Ann Intern Med 2007;146:77-86
17. 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
18. 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
19. Lang RM, Bierig M, Devereux RB, et al.; Chamber Quantification Writing Group; American Society of Echocardiography's Guidelines and Standards Committee; European Association of Echocardiography. Recommendations for chamber quantification: A report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology. J Am Soc Echocardiogr 2005;18:1440-1463
20. Lang RM, Bierig M, Devereux RB, et al.; American Society of Echocardiography's Nomenclature and Standards Committee; Task Force on Chamber Quantification; American College of Cardiology Echocardiography Committee; American Heart Association; European Association of Echocardiography, European Society of Cardiology. Recommendations for chamber quantification. Eur J Echocardiogr 2006;7:79-108
21. Fabry Registry Recommended Schedule of Assessments. https://www. lsdregistry.net/fabryregistry/. Accessed 11 March 2013
22. Meehan SM, Junsanto T, Rydel JJ, Desnick RJ. Fabry disease: Renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications. Am J Kidney Dis 2004;43:164-171
23. 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
24. Spinelli L, Pisani A, Sabbatini M, et al. Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry's disease. Clin Genet 2004;66:158-165
25. Kampmann C, Linhart A, Baehner F, et al. Onset and progression of the Anderson-Fabry disease related cardiomyopathy. Int J Cardiol 2008;130: 367-373
26. 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
27. 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 2006;113:e720-e721
28. Mehta A, Beck M, Elliott P, et al.; Fabry Outcome Survey investigators. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: An analysis of registry data. Lancet 2009;374:1986-1996
29. Chen SC, Chang JM, Liu WC, et al. The ratio of observed to predicted left ventricular mass is independently associated with increased cardiovascular events in patients with chronic kidney disease. Hypertens Res 2012;35:832-838
30. Warnock DG, Ortiz A, Mauer M, et al.; Fabry Registry. Renal outcomes of agalsidase beta treatment for Fabry disease: Role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant 2012;27:1042-1049
31. Levey AS, Stevens LA, Schmid CH, et al.; CKD-EPI (Chronic Kidney Disease Epidemiology Collaboration). A new equation to estimate glomerular filtration rate. Ann Intern Med 2009;150:604-612