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European Journal of Echocardiography Advance Access published online on May 20, 2008
European Journal of Echocardiography, doi:10.1093/ejechocard/jen170
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Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2008. For permissions please email: journals.permissions@oxfordjournals.org

Nomen est Omen

F. Weidemann*, C Wanner and F. Breunig

Department of Medicine/Nephrology, University of Würzburg, Josef-Schneider Str. 2, D 20, 97080 Wuerzburg, Germany

Received 10 March 2008; accepted after revision 26 April 2008.

* Corresponding author. Tel: +49 931 2010; fax: +49 931 20136291. E-mail address: weidemann_f{at}medizin.uni-wuerzburg.de


  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.

Keywords: Fabry; Cardiomyopathy; Echocardiography


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