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

Brendan N Putko1, Kevin Wen, Richard B Thompson

  • 1Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, Edmonton, T6G 2S2, AB, Canada.

Heart Failure Reviews
|July 18, 2014
PubMed

Insights

Anderson-Fabry disease (AFD) is a genetic disorder causing globotriaosylceramide buildup. Early diagnosis and enzyme replacement therapy (ERT) can manage AFD cardiomyopathy, a major cause of mortality.

Area of Science:

  • Genetics
  • Biochemistry
  • Cardiology

Background:

  • Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disorder.
  • It results from deficient alpha-galactosidase A (α-Gal A) activity, leading to globotriaosylceramide accumulation.
  • AFD cardiomyopathy is a significant cause of mortality in affected individuals.

Observation:

  • Cardiac manifestations include structural, valvular, vascular, and conduction abnormalities.
  • Prevalence studies show AFD affects diverse ethnic populations, highlighting a potential unrecognized health burden.
  • Genetic testing is crucial for diagnosing AFD, especially in women.

Findings:

  • Echocardiography with strain imaging and cardiac MRI (late enhancement, T1 mapping) are key diagnostic tools.
  • Enzyme replacement therapy (ERT) can reverse or prevent disease progression.
  • Gene therapy and molecular chaperones are emerging as novel therapeutic strategies.

Implications:

  • Anderson-Fabry cardiomyopathy is a treatable cause of heart failure if diagnosed and managed early.
  • Prompt initiation of ERT is critical for improving outcomes and preventing irreversible cardiac damage.
  • Increased awareness and screening can help identify affected individuals and reduce mortality associated with AFD.

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