Anderson-Fabry disease and the heart

Prog Cardiovasc Dis. 2010 Jan-Feb;52(4):326-35. doi: 10.1016/j.pcad.2009.11.002.

Abstract

Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes alpha-galactosidase A. The ensuing enzyme deficiency results in intracellular accumulation of neutral glycosphingolipids (primarily globotriaosylceramide) and progressive renal, cardiac, and cerebrovascular disease. Female carriers are at risk of developing disease, but this tends to be milder and more slowly progressive than in males. Left ventricular hypertrophy is the most common cardiac manifestation followed by conduction system disease, valve dysfunction, and arrhythmias. Management of cardiovascular symptoms and the prevention of complications rely on conventional pharmacologic and device-based therapies, but data on the effect of enzyme replacement therapy suggest that it has the potential to attenuate and possibly reverse some aspects of cardiac involvement.

Publication types

  • Review

MeSH terms

  • Adult
  • Arrhythmias, Cardiac / genetics
  • Cardiovascular Agents / therapeutic use
  • Diagnostic Imaging
  • Disease Progression
  • Enzyme Replacement Therapy
  • Fabry Disease / complications
  • Fabry Disease / diagnosis
  • Fabry Disease / enzymology
  • Fabry Disease / epidemiology
  • Fabry Disease / genetics*
  • Fabry Disease / therapy
  • Female
  • Genetic Predisposition to Disease
  • Heart Diseases / diagnosis
  • Heart Diseases / enzymology
  • Heart Diseases / epidemiology
  • Heart Diseases / genetics*
  • Heart Diseases / prevention & control
  • Heart Diseases / therapy
  • Heart Function Tests
  • Heart Valve Diseases / genetics
  • Humans
  • Hypertrophy, Left Ventricular / genetics
  • Male
  • Middle Aged
  • Mutation*
  • Predictive Value of Tests
  • Risk Factors
  • Sex Factors
  • Treatment Outcome
  • alpha-Galactosidase / genetics*
  • alpha-Galactosidase / metabolism
  • alpha-Galactosidase / therapeutic use

Substances

  • Cardiovascular Agents
  • alpha-Galactosidase