Article
Phenotype and genotype characterization and twin association in patients with Anderson-Fabry cardiomyopathy.
Cardiology - 1 Jan 2012
Gomez Miquel, Molina Lluis, Cladellas Mercedes, Ascoeta Soledad, Soler Cristina, Ble Mireia, Ramirez Aleyska, Bruguera Jordi
Abstract excerpt
Anderson-Fabry disease (FD), an X-linked recessive lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-Gal A) activity, is associated with cardiac manifestations including arrhythmias, valvular abnormalities, and cardiomyopathy. Early initiation of enzyme replacement therapy (ERT) may have the potential to delay the underlying clinical outcomes in patients with FD. Clinical electrocardiogram...
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