Diagnosis of Fabry Disease in a Patient with a Surgically Repaired Congenital Heart Defect: When Clinical History and Genetics Make the Difference

Diagnosis of Fabry Disease in a Patient with a Surgically Repaired Congenital Heart Defect: When Clinical History and Genetics Make the Difference

Fabry disease (FD) is a multiorgan disease, which can potentially affect any organ or tissue, with the heart, kidneys, and central nervous system representing the major disease targets. FD can be suspected based on the presence of specific red flags, and the subsequent evaluation of the α-Gal A acti...

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Bibliographic Details
Main Authors: Marta Rubino, Emanuele Monda, Martina Caiazza, Giuseppe Palmiero, Michele Lioncino, Annapaola Cirillo, Adelaide Fusco, Federica Verrillo, Alessia Perna, Gaetano Diana, Federica Amodio, Arturo Cesaro, Giovanni Duro, Berardo Sarubbi, Maria Giovanna Russo, Paolo Calabrò, Giuseppe Limongelli
Format: Article
Language:English
Published: MDPI AG 2022-02-01
Series:Cardiogenetics
Subjects:
Fabry disease
congenital heart defect
clinical markers
enzyme replacement therapy
migalastat
cascade program screening
Online Access:https://www.mdpi.com/2035-8148/12/1/10

Internet

https://www.mdpi.com/2035-8148/12/1/10

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