Late diagnsis of Fabry disease at the stage of cardiac involvement
https://doi.org/10.35336/VA-2021-1-64-67
Abstract
A clinical case report of late diagnosis (in relation to clinical manifestation) of the classic phenotype of Fabry disease in patient with cardiac involvement: phenocopy of hypertrophy cardiomyopathy, cardiac arrhythmias and conduction abnormalities.
About the Authors
L. N. Malyugina
Leningrad Regional Clinical Hospital
Russian Federation
Russian Federation
Malyugina Lyubov
Saint Petersburg
V. K. Lebedeva
Almazov National Medical Research Centre
Russian Federation
Russian Federation
Saint Petersburg
E. A. Osipova
Arhangelsk Regional Clinical Hospital
Russian Federation
Russian Federation
Arhangelsk
S. V. Moiseev
Sechenov First Moscow State Medical University
Russian Federation
Russian Federation
Moscow
P. I. Novikov
Sechenov First Moscow State Medical University
Russian Federation
Russian Federation
Moscow
References
1. Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: structure of human α-galactosidase. J Mol Biol. 2004; 337: 319-335.
2. Arends M, Wanner C, Hughes D, et al. Characterization of classical and nonclassical Fabry disease: a multicenter study. J Am Soc Nephrol. 2017;28: 1631.
3. Michaud M, Mauhin W, Belmatoug N, et al. When and how to diagnose Fabry disease in clinical practice. Am J Med Sci. 2020;3: 1-9.
4. Linhart A, Kampmann C, Zamorano JL, et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J. 2007; 28:1228-1235.
5. Sheppard MN. The heart in Fabry’s disease. Cardiovascular Pathology. 2011;2011: 8-14.
6. Acharya D, Robertson P, Neal Kay G, et al. Arrhythmias in Fabry cardiomyopathy. Clin Cardiol. 2012 Dec;35(12): 738-40.
7. Клинические рекомендации «Гипертрофическая кардиомиопатия» ID: КР283. Доступно: http://cr.rosminzdrav.ru/recomend/283_1.
8. Elliott PM, Anastasakis A, Borger MA, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the task force for the diagnosis and management of hypertrophic cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014;35: 2733-79.
9. Higashi H, Yamagata K, Noda T, et al. Endocardial and epicardial substrates of ventricular tachycardia in a patient with Fabry disease. Heart Rhythm. 2011;8 (1): 133-6.
10. Fine NM, Wang Y, Khan A. Acute decompensated heart failure after initiation of amiodarone in a patient with Anderson-Fabry disease. Canadian J Of Cardiology. 2019; 35(104): е5-е7.
11. Whybra C, Kampmann C, Krummenauer F, et al. The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet. 2004;65: 299-307.
12. Reisin R, Perrin A, García-Pavía P. Time delays in the diagnosis and treatment of Fabry disease. Int J Clin Pract. 2017;71(1): e12914.
13. Branton MH, Schiffmann R, Sabnis SG, et al. Natural history of Fabry renal disease influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore). 2002;81(2): 122-138.
14. Heath MF, Costa-Jussa FR, Jacobs JM, Jacobson W. The induction of pulmonary phospholipidosis and the inhibition of lysosomal phospholipases by amiodarone. Br J Exp Pathol. 1985;66: 391-7.
Review
For citations:
Malyugina L.N., Lebedeva V.K., Osipova E.A., Moiseev S.V., Novikov P.I. Late diagnsis of Fabry disease at the stage of cardiac involvement. Journal of Arrhythmology. 2021;28(1):64-67. (In Russ.) https://doi.org/10.35336/VA-2021-1-64-67
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