Unexplained left ventricular hypertrophy: Consider a diagnosis of Fabry's disease

Netherlands Heart Journal

Volumn 14, Issue 3, 2006, Pages 100-105

  Linthorst, G E ^a,b   Vedder, A C ^a   Bouma, B J ^a   Dekker, L R C ^a   Hollak, C E M ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Diagnosis; Fabry's disease; Left ventricular hypertrophy; Lysosomal storage disorders; Treatment

Indexed keywords

DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR;

ADULT; ANAMNESIS; ANGIOCARDIOGRAPHY; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; ELECTROCARDIOGRAM; FABRY DISEASE; FEMALE; HEART LEFT VENTRICLE HYPERTROPHY; HUMAN; LABORATORY TEST; PREVALENCE;

EID: 34848843477     PISSN: 15685888     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

1. Reuser AJ. Cel en ziekte: V. Pathologie van het lysosoom. Ned Tijdschr Geneeskd 1993;137:2028-34.
2. Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in the Netherlands. Hum Genet 1999;105:151-6.
3. Linthorst GE, Hollak CEM, Bosman DK, Heymans HSA, Aerts JM. De ziekte van Fabry: op weg naar een behandeling. Ned Tijdschr Geneeskd 2000;144:2391-5.
4. Verovnik F, Benko D, Vujkovac B, Linthorst GE. Remarkable variability in renal disease in a large Slovenian family with Fabry's disease. Eur J Hum Genet 2004;12(8):678-81.
5. Ikari Y, Kuwako K, Yamaguchi T. Fabry's disease with complete atrioventricular block: histological evidence of involvement of the conduction system. Br Heart J 1992;68:323-5.
6. Vedder AC, Linthorst GE, Aerts JM, Hollak CE. Clinical characteristics of the Dutch Fabry patients. Medicine (Baltimore).
7. 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;417:449-55.
8. Ogawa K, Sugamata K, Funamoto N, et al. Restricted accumulation of globotriaosylceramide in the hearts of atypical cases of Fabry's disease. Hum Pathol 1990;21:1067-73.
9. Nagao Y, Nakashima H, Fukuhara Y, et al. Hypertrophic cardiomyopathy in late-onset variant of Fabry's disease with high residual activity of alpha-galactosidase A. Clin Genet 1991;39:233-7.
10. Von Scheidt W, Eng CM, Fitzmaurice TF, et al. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 1991;324:395-9.
11. 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;333:288-93.
12. Ommen SR, Nishimura RA, Edwards WD. Fabry's disease: a mimic for obstructive hypertrophic cardiomyopathy? Heart 2003;89:929.
13. Chimenti C, Pieroni M, Morgante E, et al. Prevalence of Fabry's disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation 2004;110:1047-53.
14. Cantor WJ, Butany J, Iwanochko M, Liu P. Restrictive Cardiomyopathy Secondary to Fabry's Disease. Circulation 1998;98:1457-9.
15. Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human α-galactosidase A replacement therapy in Fabry's disease. N Engl J Med 2001;345:9-16.
16. Wilcox WR, Banikazemi M, Guffon N, et al. Long-Term Safety and Efficacy of Enzyme Replacement Therapyfor Fabry's disease. Am J Hum Genet 2004;55(1):65-74.
17. Weidemann F, Breunig F, Beer M, et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry's disease: a prospective strain rate imaging study. Circulation 2003;108:1299- 301.
18. Sachdev B, Takenaka T, Teraguchi H, et al. Prevalence of Anderson-Fabry's disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002;105:1407-11.