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

  title={Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment},
  author={B. Putko and Kevin C Wen and R. Thompson and J. Mullen and M. Shanks and Haran Yogasundaram and C. Sergi and G. Oudit},
  journal={Heart Failure Reviews},
  • B. Putko, Kevin C Wen, +5 authors G. Oudit
  • Published 2014
  • Medicine
  • Heart Failure Reviews
  • 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… CONTINUE READING
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