Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment.

[fabry disease]

Anderson-Fabry disease (AFD ) is a lysosomal storage disease caused by the inappropriate accumulation of globotriaosylceramide in tissues due to a deficiency in the enzyme α-galactosidase A (α-Gal A ). Anderson -Fabry cardiomyopathy is characterized by structural , valvular , vascular and conduction abnormalities , and is now the most common cause of mortality in patients with AFD . Large -scale metabolic and genetic screening studies have revealed AFD to be prevalent in populations of diverse ethnic origins , and the variant form of AFD represents an unrecognized health burden . Anderson-Fabry disease is an X-linked disorder , and genetic testing is critical for the diagnosis of AFD in women . Echocardiography with strain imaging and cardiac magnetic resonance imaging using late enhancement and T 1 mapping are important imaging tools . The current therapy for AFD is enzyme replacement therapy (ERT ), which can reverse or prevent AFD progression , while gene therapy and the use of molecular chaperones represent promising novel therapies for AFD . Anderson -Fabry cardiomyopathy is an important and potentially reversible cause of heart failure that involves LVH , increased susceptibility to arrhythmias and valvular regurgitation . Genetic testing and cardiac MRI are important diagnostic tools , and AFD cardiomyopathy is treatable if ERT is introduced early .