Cardiovascular manifestations of fabry disease: Relationships between left ventricular hypertrophy, disease severity, and-galactosidase a activity

European Heart Journal

Volumn 31, Issue 9, 2010, Pages 1088-1097

  Wu, Justina C ^a   Ho, Carolyn Y ^a   Skali, Hicham ^a   Abichandani, Rekha ^b   Wilcox, William R ^c   Banikazemi, Maryam ^d,g   Packman, Seymour ^e   Sims, Katherine ^f   Solomon, Scott D ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b GENZYME CORPORATION   (United States)

^c CEDARS SINAI MEDICAL CENTER   (United States)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f MASSACHUSETTS GENERAL HOSPITAL   (United States)

^g NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Galactosidase; Cardiomyopathy; Echocardiography; Fabry; Genetics; Hypertrophy

Indexed keywords

AGALSIDASE BETA; ALPHA GALACTOSIDASE; PLACEBO;

ADOLESCENT; ADULT; AGED; ARTICLE; CARDIOVASCULAR MALFORMATION; CARDIOVASCULAR SYMPTOM; CLINICAL TRIAL; COHORT ANALYSIS; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISEASE SEVERITY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ENZYME ACTIVITY; ENZYME REPLACEMENT; FABRY DISEASE; FEMALE; HEART LEFT VENTRICLE HYPERTROPHY; HEART LEFT VENTRICLE MASS; HUMAN; KIDNEY DISEASE; MAJOR CLINICAL STUDY; MALE; PHASE 4 CLINICAL TRIAL; PREVALENCE; PRIORITY JOURNAL; PROSPECTIVE STUDY; SCREENING TEST;

ADOLESCENT; ADULT; AGED; ALPHA-GALACTOSIDASE; ECHOCARDIOGRAPHY; FABRY DISEASE; FEMALE; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; MALE; MIDDLE AGED; PROSPECTIVE STUDIES; YOUNG ADULT;

EID: 77952062043     PISSN: 0195668X     EISSN: 15229645     Source Type: Journal    
DOI: 10.1093/eurheartj/ehp588     Document Type: Article

References (22)

1. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. Fabry disease, an under-recognized multi-systemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003;138:338-346.
2. 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. (Pubitemid 33032930)
3. 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. (Pubitemid 33032933)
4. Linhart A, Kampmann C, Zamorano JL, Sunder-Plassmann G, Beck M, Mehta A, Elliott PM. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J 2007;28:1228-1235.
5. Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, Breunig F, Germain DP, Nicholls K, Banikazemi M. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 2007;30:184-192.
6. Linhart A, Palecek T, Bultas J, Ferguson JJ, Hrudova J, Karetová D, Zeman J, Ledvinová J, Poupetova H, Elleder M, Aschermann M. New insights in cardiac structural changes in patients with Fabry's disease. Am Heart J 2000;139: 1101-1108.
7. von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hubner G, Olsen EG, Christomanou H, Kandolf R, Bishop DF, Desnick RJ. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 1991;324:395-399.
8. Kampmann C, Baehner F, Whybra C, Martin C, Wiethoff CM, Ries M, Gal A, Beck M. Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol 2002;40:1668-1674.
9. Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ, for the Fabry Disease Clinical Trial study Group. Agalsidase-beta therapy for advanced Fabry disease. Ann Intern Med 2007;146:77-86.
10. Lang RM, Bierig M, Devereux RB, Flachskampf FA, Foster E, Pellikka PA, Picard MH, Roman MJ, Seward J, Shanewise JS, Solomon SD, Spencer KT, Sutton MS, Stewart WJ. Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group. J Am Soc Echocar-diogr 2005;18:1440-1463.
11. Wyatt HL, Haendchen RV, Meerbaum S, Corday E. Assessment of quantitative methods for 2-dimensional echocardiography. Am J Cardiol 1983;52:396-401.
12. Levey AS, Bosch JP, Lewis JB, Greene T, Rogers N, Roth D. A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation. Modification of Diet in Renal Disease Study Group. Ann Intern Med 1999;130:461-470.
13. Sokolow M, Lyon TP. The ventricular complex in left ventricular hypertrophy as obtained by unipolar precordial and limb leads. Am Heart J 1949;37:161-186.
14. Henein M, Lindqvist P, Francis D, Mörner S, Waldenström A, Kazzam E. Tissue Doppler analysis of age-dependency in diastolic ventricular behaviour and filling. Eur Heart J 2002;23:162-171.
15. Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, Linhart A, Sunder-Plassmann G, Ries M, Beck M. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004;34:236-242.
16. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ, International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant human alpha-galactosidase A\repla-cement therapy in Fabry's disease. N Engl J Med 2001;345:9-16.
17. Weidemann F, Breunig F, Beer M, Sandstede J, Turschner O, Voelker W, Ertl G, Knoll A, Wanner C, Strotmann JM. Improvement in cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 2003;108:1299-1301.
18. Hughes DA, Eliott PM, Shah J, Zuckerman J, Coghlan G, Brookes J, Mehta AB. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agal-sidase alfa. Heart 2008;94:153-158.
19. Elleder M, Bradova V, Smid F, Bude?ś?nský M, Harzer K, Kustermann-Kuhn B, Ledvinová J, Be?lohlávek, Král V, Dorazilová V. 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 Histo-pathol 1990;417:449-455.
20. Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunic F, Wanner C, Warnock DG, Lemay RM, Germain DP. Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry. Mol Gen Met 2008;93:112-129.
21. Kampmann C, Linhart A, Baehner F, Palecek T, Wiethoff CM, Miebach E, Whybra C, Gal A, Bultas J, Beck M. Onset and progression of Anderson-Fabry disease related cardiomyopathy. Int J Cardiol 2008;130:367-373.
22. Pieroni M, Chimenti C, Ricci R, Sale P, Russo MA, Frustaci A. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation 2003;107: 1978-1984.