Nomen est omen. Fabry disease.
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.
Weidemann
F
F
Department of Medicine/Nephrology, University of Würzburg, Josef-Schneider Str. 2, D 20, 97080 Wuerzburg, Germany. weidemann_f@medizin.uni-wuerzburg.de
Wanner
C
C
Breunig
F
F
D001045:Aphorisms and Proverbs as Topic; D004417:Dyspnea / Q000209:etiology; D000795:Fabry Disease / Q000150:complications / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000000981:diagnostic imaging* / Q000209:etiology; D008875:Middle Aged; D010146:Pain / Q000209:etiology; D012680:Sensitivity and Specificity; D014463:Ultrasonography