Case Report
Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literature
Sebastian Militaru 1
, Robert Adam 1
, Lucian Dorobantu 3
, Paolo Ferrazzi 3
, Maria Iascone 4
, Viorica Radoi 2
, Gener Ismail 5
, Bogdan A. Popescu 1
, Ruxandra Jurcut 1
, Robert Adam 1
, Lucian Dorobantu 3
, Paolo Ferrazzi 3
, Maria Iascone 4
, Viorica Radoi 2
, Gener Ismail 5
, Bogdan A. Popescu 1
, Ruxandra Jurcut 1
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
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