The Fabry Cardiomyopathy: Models for the Cardiologist

Annu Rev Med. 2011;62:59-67. doi: 10.1146/annurev-med-090910-085119.

Abstract

Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency. Intracellular accumulation of globotriaosylceramide starts in utero and progressively develops in various tissues and organs. Cardiac involvement is frequent, and its presentation as concentric nonobstructive left ventricular hypertrophy serves as a model for other hypertrophic cardiomyopathies. This review describes the Fabry cardiomyopathy, its treatment, and multidisciplinary patient care models. These models will help clinicians in diagnosing, assessing, and treating patients with Fabry disease. As the models can be extrapolated to other diseases, they might contribute to more optimal clinical management of patients with other cardiac disorders.

Publication types

  • Review

MeSH terms

  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / drug therapy*
  • Cardiomyopathies / etiology*
  • Enzyme Replacement Therapy*
  • Fabry Disease / complications*
  • Female
  • Humans
  • Male
  • Treatment Outcome
  • Trihexosylceramides / metabolism
  • alpha-Galactosidase / therapeutic use*

Substances

  • Trihexosylceramides
  • globotriaosylceramide
  • alpha-Galactosidase