Cardiac abnormalities in Fabry disease: Natural history in hemizygote males suggests that cardiac pathology is universally present

HAEMA

Volumn 8, Issue 1, 2005, Pages 103-108

  Altarescu, Gheona ^a   Elstein, Deborah ^a  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

galactosidase A; Cardiac disease; Fabry disease; Left ventricular hypertrophy; Lysosomal storage disorder

Indexed keywords

ALPHA GALACTOSIDASE; BIOLOGICAL MARKER; HEART ENZYME;

ADULT; ARTICLE; ELECTROCARDIOGRAM; ENZYME ACTIVITY; ENZYME ANALYSIS; FABRY DISEASE; HEALTH CARE ORGANIZATION; HEART DISEASE; HEART FUNCTION; HEART LEFT VENTRICLE HYPERTROPHY; HEMIZYGOTE; HUMAN; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; MALE; PR INTERVAL; QRS COMPLEX; QT INTERVAL; RETROSPECTIVE STUDY; TWO DIMENSIONAL ECHOCARDIOGRAPHY;

EID: 15244338811     PISSN: 11082682     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. Brady RO, Gal AE, Bradley RM et al. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med 1967; 276: 1163-1167.
2. Kornreich R, Bishop DF, Desnick RJ. The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease. Trans Assoc Am Physicians 1989; 102: 30-43.
3. Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L.). Naturwissenschaften 1961; 190: 372-373.
4. 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: 449-455.
5. Bernstein HS, Bishop DF, Astrin KH et al. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. J Clin Invest 1989; 83: 1390-1399.
6. Ashton-Prolla P, Tong B, Shabbeer J et al. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. J Investig Med 2000; 48: 227-235.
7. Ledvinova J, Poupetova H, Hanackova A et al. Blood group B glycosphingolipids in alpha-galactosidase deficiency (Fabry disease): influence of secretor status. Biochim Biophys Acta 1997; 1345: 180-187.
8. Clarke JT, Knaack J, Crawhall JC, Wolfe LS. Ceramide trihexosidosis (fabry's disease) without skin lesions. N Engl J Med 1971; 284: 233-235.
9. Ishii S, Nakao S, Minamikawa-Tachino R et al. Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am J Hum Genet 2002; 70: 994-1002.
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: 395-399.
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: 288-293.
12. Chimenti C, Ricci R, Pieroni M et al. Cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy. Cardiologia 1999; 44: 469-473.
13. Yoshitama T, Nakao S, Takenaka T et al. Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease. Am J Cardiol 2001; 87: 71-75.
14. Beer G, Reinecke P, Gabbert HE et al. Fabry disease in patients with hypertrophic cardiomyopathy (HCM). Z Kardiol 2002; 91: 992-1002.
15. Sachdev B, Takenaka T, Teraguchi H et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002; 105: 1407-1411.
16. Linhart A, Lubanda JC, Palecek T et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis 2001; 24(suppl. 2): 75-83.
17. Zeidner KM, Desnick RJ, Ioannou YA. Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit. Anal Biochem 1999; 267: 104-113.
18. Altarescu GM, Goldfarb LG, Park KY et al. Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. Clin Genet 2001; 60: 46-51.
19. Okin PM, Devereux RB, Jern S et al. Relation of echocardiographic left ventricular mass and hypertrophy to persistent electrocardiographic left ventricular hypertrophy in hypertensive patients: the LIFE Study. Am J Hypertens 2001; 14: 775-782.
20. Perrot A, Osterziel KJ, Beck M et al. Fabry disease: focus on cardiac manifestations and molecular mechanisms. Herz 2002; 27: 699-702.
21. Kampmann C, Baehner F, Whybra C et al. Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol 2002; 40: 1668-1674.
22. Kampmann C, Wiethoff CM, Martin C et al. Electrocardiographic signs of hypertrophy in fabry disease-associated hypertrophic cardiomyopathy. Acta Paediatr 2002; 91(suppl.): 21-27.
23. Kramer W, Thormann J, Mueller K, Frenzel H. Progressive cardiac involvement by Fabry's disease despite successful renal allotransplantation. Int J Cardiol 1985; 7: 72-75.
24. Eng CM, Banikazemi M, Gordon RE et al. A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 2001; 68: 711-722.
25. rd et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001; 285: 2743-2749.