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

Authors :
Militaru, Sebastian
Adam, Robert
Dorobantu, Lucian
Ferrazzi, Paolo
Iascone, Maria
Radoi, Viorica
Gener, Ismail
Popescu, Bogdan A.
Jurcut, Ruxandra
Source :
Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi; Sep2019, Vol. 22 Issue 3, p154-158, 5p
Publication Year :
2019

Abstract

The article presents a case study of a 49-year-old woman with a diagnosis of hypertrophic obstructive cardiomyopathy (HOCM) established 6 years before and complained of dyspnea with moderate exertion. It mentions the findings of Fabry disease (FD) through diagnosis which is a X-linked genetic disease caused by mutations in the GLA gene, and encodes α-galactosidase A, leading to an intralysosomal accumulation of globotriaosilceramide (Gb3) in a wide variety of cells.

Details

Language :
English
ISSN :
21492263
Volume :
22
Issue :
3
Database :
Complementary Index
Journal :
Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi
Publication Type :
Academic Journal
Accession number :
138425185
Full Text :
https://doi.org/10.14744/AnatolJCardiol.2019.47969