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

• Sebastian Militaru,
• Robert Adam,
• Lucian Dorobantu,
• Paolo Ferrazzi,
• Maria Iascone,
• Viorica Radoi,
• Gener Ismail,
• Bogdan A. Popescu,
• Ruxandra Jurcut

Affiliations

Sebastian Militaru

Department of Cardiology, The Expert Center for Rare Genetic Cardiovascular Diseases, Euroecolab, Emergency Institute for Cardiovascular Diseases 'Prof. Dr. C.C. Iliescu'; Bucharest-Romania

Robert Adam

Department of Cardiology, The Expert Center for Rare Genetic Cardiovascular Diseases, Euroecolab, Emergency Institute for Cardiovascular Diseases 'Prof. Dr. C.C. Iliescu'; Bucharest-Romania

Lucian Dorobantu

Medical Genetics Laboratory, Hospital Papa Giovanni XXIII; Bergamo-Italy

Paolo Ferrazzi

Medical Genetics Laboratory, Hospital Papa Giovanni XXIII; Bergamo-Italy

Maria Iascone

Department of Medical Genetics, Carol Davila University of Medicine and Pharmacy; Bucharest-Romania

Viorica Radoi

Centre for Hypertrophic Cardiomyopathy and Valvular Heart Disease, Monza Clinical Hospital; Bucharest-Romania

Gener Ismail

Department of Nephrology, Fundeni Clinical Institute; Bucharest-Romania

Bogdan A. Popescu

Department of Cardiology, The Expert Center for Rare Genetic Cardiovascular Diseases, Euroecolab, Emergency Institute for Cardiovascular Diseases 'Prof. Dr. C.C. Iliescu'; Bucharest-Romania

Ruxandra Jurcut

Department of Cardiology, The Expert Center for Rare Genetic Cardiovascular Diseases, Euroecolab, Emergency Institute for Cardiovascular Diseases 'Prof. Dr. C.C. Iliescu'; Bucharest-Romania