Literature DB >> 18492655

Nomen est omen. Fabry disease.

F Weidemann1, C Wanner, F Breunig.   

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.

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Year:  2008        PMID: 18492655     DOI: 10.1093/ejechocard/jen170

Source DB:  PubMed          Journal:  Eur J Echocardiogr        ISSN: 1532-2114


  3 in total

Review 1.  [Females with Fabry's disease - an interdisciplinary diagnostic and therapeutic challenge].

Authors:  Frank Weidemann; Markus Niemann; Claudia Sommer; Meinrad Beer; Frank Breunig; Christoph Wanner
Journal:  Med Klin (Munich)       Date:  2010-09-28

Review 2.  [The various forms of left ventricular hypertrophy: diagnostic value of echocardiography].

Authors:  F Weidemann; S Störk; S Herrmann; G Ertl; M Niemann
Journal:  Herz       Date:  2011-12       Impact factor: 1.443

Review 3.  Longitudinal strain bull's eye plot patterns in patients with cardiomyopathy and concentric left ventricular hypertrophy.

Authors:  Dan Liu; Kai Hu; Peter Nordbeck; Georg Ertl; Stefan Störk; Frank Weidemann
Journal:  Eur J Med Res       Date:  2016-05-10       Impact factor: 2.175

  3 in total

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