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Volume : 25 Issue : 5 Year : 2021
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Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literature [Anatol J Cardiol]
Anatol J Cardiol. 2019; 22(3): 154-158 | DOI: 10.14744/AnatolJCardiol.2019.47969

Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literature

Sebastian Militaru1, Robert Adam1, Lucian Dorobantu3, Paolo Ferrazzi3, Maria Iascone4, Viorica Radoi2, Gener Ismail5, Bogdan A. Popescu1, Ruxandra Jurcut1
1Department of Cardiology, The Expert Center for Rare Genetic Cardiovascular Diseases, Euroecolab, Emergency Institute for Cardiovascular Diseases “Prof. Dr. C.C. Iliescu”; Bucharest-Romania
2Centre for Hypertrophic Cardiomyopathy and Valvular Heart Disease, Monza Clinical Hospital; Bucharest-Romania
3Medical Genetics Laboratory, Hospital Papa Giovanni XXIII; Bergamo-Italy
4Department of Medical Genetics, Carol Davila University of Medicine and Pharmacy; Bucharest-Romania
5Department of Nephrology, Fundeni Clinical Institute; Bucharest-Romania

Keywords: Fabry disease, hypertrophic obstructive cardiomyopathy, GLA mutation, myectomy, intrafamilial variability







Sebastian Militaru, Robert Adam, Lucian Dorobantu, Paolo Ferrazzi, Maria Iascone, Viorica Radoi, Gener Ismail, Bogdan A. Popescu, Ruxandra Jurcut. Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literature. Anatol J Cardiol. 2019; 22(3): 154-158

Corresponding Author: Ruxandra Jurcut, Romania