[Cardiac involvement in Fabry's disease].
Fabry's disease is a rare X-linked lysosomal storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of all tissues. The disease is characterized by a progressive involvement of important vital organs like the kidneys, the cerebrovascular system and the heart. Within the scope of this article an overview of Fabry's cardiomyopathy, the necessary cardiac diagnostic tests and, in addition, the new concept of enzyme replacement therapy is given.
Weidemann
Frank
F
Medizinische Klinik und Poliklinik I, Herz- und Kreislaufzentrum, Universitätsklinikum, Julius-Maximilians-Universität Würzburg, Josef-Schneider-Strasse 2, Würzburg. weidemann_f@medizin.uni-wuerzburg.de
Breunig
Frank
F
D000328:Adult; D000806:Angiotensin-Converting Enzyme Inhibitors / Q000008:administration & dosage / Q000627:therapeutic use; D009202:Cardiomyopathies / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000188:drug therapy; D004359:Drug Therapy, Combination; D015150:Echocardiography, Doppler; D000795:Fabry Disease / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000188:drug therapy; D005260:Female; D006801:Humans; D000960:Hypolipidemic Agents / Q000008:administration & dosage / Q000627:therapeutic use; D008279:Magnetic Resonance Imaging; D008297:Male; D013997:Time Factors; D000519:alpha-Galactosidase / Q000008:administration & dosage / Q000627:therapeutic use
D000806:Angiotensin-Converting Enzyme Inhibitors; D000960:Hypolipidemic Agents; D000519:alpha-Galactosidase