Fabry's disease presenting as ventricular tachycardia and left ventricular 'hypertrophy'

Eur J Echocardiogr. 2008 Sep;9(5):697-9. doi: 10.1093/ejechocard/jen132. Epub 2008 Apr 4.

Abstract

Fabry's disease (FD) is a genetic disorder leading to deficiency of alpha-galactosidase A. Enzymatic replacement therapy has recently become available. Patients with classical FD develop multi-system involvement; however, there is an increasingly recognized cardiac variant that presents as unexplained left ventricular hypertrophy. We describe a patient with Fabry's disease who presented with ventricular tachycardia.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Echocardiography*
  • Fabry Disease / complications*
  • Fabry Disease / diagnostic imaging
  • Fabry Disease / pathology
  • Humans
  • Hypertrophy, Left Ventricular / diagnostic imaging
  • Hypertrophy, Left Ventricular / etiology*
  • Hypertrophy, Left Ventricular / pathology
  • Male
  • Middle Aged
  • Tachycardia, Ventricular / diagnostic imaging
  • Tachycardia, Ventricular / etiology*
  • Tachycardia, Ventricular / pathology
  • alpha-Galactosidase

Substances

  • alpha-Galactosidase