Cardiac abnormalities in Anderson-Fabry disease and Fabry's cardiomyopathy

Cardiovasc J Afr. 2011 Jan-Feb;22(1):38-44.

Abstract

Fabry's disease is an X-linked lysosomal storage disease most often associated with renal dysfunction and death due to renal failure in patients' fourth and fifth decades of life. However, cardiac manifestations including arrhythmias, angina and heart failure are common and probably underrecognized. Furthermore, Fabry's disease is now recognised as also affecting female carriers, who manifest signs later than males. A variant of Fabry's has been identified that only affects cardiac tissue, which presents as an unexplained hypertrophy of the left ventricle in middle-aged patients, possibly with women more affected than men. Given that epidemiological studies report a prevalence of Fabry's cardiomyopathy among middle-aged patients with cardiac hypertrophy to be anywhere from one to 12%, it is reasonable to screen these patients for alpha-galactosidase A deficiency. Although mortality data is lacking from randomised, controlled trials of galactosidase replacement therapy, there are some reports of improvement in cardiac endpoints. Therefore patients with known Fabry's disease should be screened early for cardiac involvement, as treatment benefit may not be seen once cardiac fibrosis has developed.

Publication types

  • Review

MeSH terms

  • Adult
  • Age Factors
  • Arrhythmias, Cardiac / etiology
  • Cardiomegaly / etiology
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / etiology*
  • Cardiomyopathies / genetics
  • Cardiomyopathies / therapy
  • Coronary Artery Disease / etiology
  • Diagnostic Imaging / methods
  • Early Diagnosis
  • Enzyme Replacement Therapy
  • Fabry Disease / complications*
  • Fabry Disease / diagnosis
  • Fabry Disease / genetics
  • Fabry Disease / therapy
  • Female
  • Genetic Predisposition to Disease
  • Heart Diseases / diagnosis
  • Heart Diseases / etiology*
  • Heart Diseases / genetics
  • Heart Diseases / therapy
  • Heart Valve Diseases / etiology
  • Humans
  • Male
  • Middle Aged
  • Predictive Value of Tests
  • Risk Factors
  • Sex Factors
  • Treatment Outcome