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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Autores principales:	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
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	MDPI AG 2022-02-01
Colección:	Cardiogenetics
Materias:	Fabry disease congenital heart defect clinical markers enzyme replacement therapy migalastat cascade program screening
Acceso en línea:	https://www.mdpi.com/2035-8148/12/1/10
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