Nomen est omen. Fabry disease

Eur J Echocardiogr. 2008 Nov;9(6):831-2. doi: 10.1093/ejechocard/jen170. Epub 2008 May 20.

Abstract

A 47-year-old woman was referred with increasing dyspnoea and neuropathic pain. During echocardiography, she showed the typical signs for a Fabry cardiomyopathy: global left ventricular function was normal with an ejection fraction of 65%. She had a concentric left ventricular hypertrophy with very prominent papillary muscles. In addition, the magnetic resonance tomography showed regional late enhancement in the postero-lateral wall which is the typical location of fibrosis in Fabry patients. She suffered from a genetically proven Fabry disease, and interestingly her family name is Mrs Fabry. Thus summarized, Mrs Fabry with a confirmed Fabry disease presented with a typically Fabry cardiomyopathy.

Publication types

  • Case Reports

MeSH terms

  • Aphorisms and Proverbs as Topic
  • Dyspnea / etiology
  • Fabry Disease / complications
  • Fabry Disease / diagnostic imaging*
  • Female
  • Humans
  • Hypertrophy, Left Ventricular / diagnostic imaging*
  • Hypertrophy, Left Ventricular / etiology
  • Middle Aged
  • Pain / etiology
  • Sensitivity and Specificity
  • Ultrasonography