Cardiac manifestation of Fabry's disease: Current knowledge;Kardiální manifestace Fabryho choroby: Současné znalosti

Vnitrni Lekarstvi

Volumn 50, Issue 11, 2004, Pages 846-851

  Paleček, Tomas ^a,b   Lubanda, J C ^a   Magage, S ^a   Karetova D ^a   Bultas, J ^a   Linhart, A ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Arrhythmias; Cardiomyopathy; Enzyme replacement therapy; Fabry's disease; Myocardial ischemia

Indexed keywords

ALPHA GALACTOSIDASE; GLYCOSPHINGOLIPID;

ARTERY ENDOTHELIUM; ATRIOVENTRICULAR BLOCK; CORONARY ARTERY DISEASE; DIASTOLE; DISEASE SEVERITY; ENDOTHELIAL DYSFUNCTION; ENZYME ACTIVITY; ENZYME DEFECT; ENZYME REPLACEMENT; FABRY DISEASE; HEART DISEASE; HEART LEFT VENTRICLE DIASTOLIC DYSFUNCTION; HEART LEFT VENTRICLE FUNCTION; HEART LEFT VENTRICLE HYPERTROPHY; HEART LEFT VENTRICLE SYSTOLIC FUNCTION; HEART MUSCLE CONDUCTION DISTURBANCE; HEART MUSCLE ISCHEMIA; HEART SUPRAVENTRICULAR ARRHYTHMIA; HEART VENTRICLE ARRHYTHMIA; HEMIZYGOSITY; HEMODYNAMICS; HETEROZYGOSITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LIPID STORAGE; LYSOSOME STORAGE DISEASE; OXYGEN CONSUMPTION; RARE DISEASE; REVIEW; SYSTOLE; VALVULAR HEART DISEASE; X CHROMOSOME LINKED DISORDER;

FABRY DISEASE; HEART DISEASES; HUMANS;

EID: 9444223336     PISSN: 0042773X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (36)

1. Altarescu, G., Moore, D. F., Pursley, R. et al.: Enhanced endothelium-dependent vasodilation in Fabry disease. Stroke, 32, 2001: 1559-1562
2. 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. Invest. Med., 48, 2000: 227-235
3. Decker, A. E., Schoorl, R., Balk, A. G. et al.: Cardiac manifestations of Fabry's disease. Report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction. Am. J. Cardiol., 36, 1975: 829-835
4. Blaydon, D., Hill, J., Winchester, B.: Fabry's disease: twenty novel GLA mutations in 35 families. Hum. Mutat., 18, 2001: 459
5. Brady, R. O., Gal, A. E., Bradley, R. M. et al.: Enzymatic defect in Fabry's disease. Ceramidetrihexoside deficiency. N. Engl. J. Med., 276, 1967: 1163-1967
6. Cantor, W. J., Butany, J., Iwanochko M. et al.: Restrictive cardiomyopathy secondary to Fabry's disease. Circulation, 98, 1998: 1457-1459
7. Desnick, R. J., Ioannou, Y. A., Eng, C. M.: α-Galactosidase A deficiency: Fabry disease, 3733-3774. In: Scriver, C. R., Beauder, A. L., Sly, W. S., (eds.): The Metabolic Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001
8. Eckart, R. E., Kinney, K. G., Belnap, C. M. et al.: Ventricular fibrillation refractory to automatic internal cardiac defibrillator in Fabry's disease. Review of cardiovascular manifestations. Cardiology, 94, 2000: 208-212
9. Efthimiou, J., McLelland, J., Betteridge, D. J. et al.: Short PR intervals and tachyarrhythmias in Fabry's disease. Postgrad. Med. J., 62, 1986: 285-287
10. Elleder, M., Bradová, V., Šmid, 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., 417, 1990: 449-455
11. Eng, C. M., Guffon, N., Wilcox, W. R. et al.: International Collaborative Fabry's Disease Study Group. Safety and efficacy of recombinant human α-galactosidae replacement therapy in Fabry's disease. N. Engl. J. Med., 345, 2001: 9-16
12. Ferrans, V. J., Hibbs, R. G., Burda, C. D.: The heart in Fabry's disease. A histochemical and electron microscopic study. Am. J. Cardiol., 24, 1969: 95-110
13. Frustaci, A., Chimenti, C., Ricci, R. et al.: Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N. Engl. J. Med., 345, 2001: 25-32
14. Goldman, M. E., Cantor, R., Schwartz, M. F. et al.: Echocardiographic abnormalities and disease severity in Fabry's disease. J. Am. Coll. Cardiol., 7, 1986: 1157-1161
15. Hillsley, R. E., Hernandez, E., Steenbergen, C. et al.: Inherited restrictive cardiomyopathy in a 74-year-old woman: a case of Fabry's disease. Am. Heart J., 129, 1995: 199-202
16. Ikari, Y., Kuwako, K., Yamaguchi, T.: Fabry's disease with complete AV block: histological evidence of involvement of the conduction system. Br. Heart. J., 68, 1992: 323-325.
17. rd International Symposium on Lysosomal Storage Diseases 2003
18. Linhart, A., Lubanda, J. C., Paleček, T. et al.: Cardiac manifestations in Fabry's disease. J. Inherit. Metab. Dis., 24 (Suppl. 2), 2001: 75-83
19. Linhart, A., Magage, S., Paleček, T. et al.: Cardiac involvement in Fabry disease. Acta Pédiatr. Suppl., 439, 2002: 15-20
20. Linhart, A., Paleček, T., Bultas, J. et al.: New insights in cardiac structural changes in patients with Fabry's disease. Am. Heart J., 139, 2000: 1101-1108
21. MacDermot, K. D., Holmes, A., Miners, A. H. et al.: Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J. Med. Genet., 38, 2001: 750-760
22. MacDermot, K. D., Holmes, A., Miners, A. H.: Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J. Med. Genet., 38, 2001: 769-775
23. Meikle, P. J., Hopwood, J. J., Clague, A. E. et al.: Prevalence of lysosomal storage disorders. JAMA, 281, 1999: 249-254
24. Moore, D. F., Altarescu, G., Ling, G. S. et al.: Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease. Reversal by enzyme replacement therapy. Circulation, 104, 2001: 1506-1512
25. 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., 333, 1995: 288-293
26. Pieroni, M., Chimenti, C., Ricci, R.: Early detection of Fabry's cardiomyopathy by tissue Doppler imaging. Circulation, 107, 2003: 1978-1984
27. Pochis, W. T., Litzow, J. T., Kong, B. G. et al.: Electrophysiologic findings in Fabry's disease with short PR interval. Am. J. Cardiol., 74, 1994: 203-204
28. Roudebush, C. P., Foerster, J. M., Bing, O. H.: The abbreviated PR interval of Fabry's disease. N. Engl. J. Med., 289, 1973: 357-358
29. Sachdev, B., Takenaka, T., Teraguchi, H. et al.: Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation, 105, 2002: 1407-1411
30. Schiffman, R., Kopp, J. B., Austin, J. B. et al.: Enzyme replacement therapy in Fabry disease. A randomized controlled trial. JAMA, 285, 2001: 2743-2749
31. Suzuki, M., Goto, T., Kato, R. et al.: Combined atrioventricular block and sinus node dysfunction in Fabry's disease. Am. Heart J., 120, 1990: 438-440
32. Tanaka, H., Adachi, K., Yamashita, Y. et al.: Four cases of Fabry's disease mimicking hypertrophic cardiomyopathy. J. Cardiol., 18, 1988: 705-718
33. Von Scheidt, W., Eng, C. M., Fitzmaurice, T. F. et al.: An atypical variant of Fabry's disease with manifestations confined to the myocardium. N. Engl. J. Med., 324, 1991: 395-399
34. Waldek, S.: PR interval and the response to enzyme-replacement therapy for Fabry's disease. N. Engl. J. Med., 348, 2003: 1186-1187
35. 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, 108, 2003: 1299-1301
36. Whybra, C., Kampmann, C., Willers, I. et al.: Anderson-Fabry disease: Clinical manifestations of disease in female hetzygotes. J. Inherit. Metab. Dis., 24, 2001: 715-724