title: The Fabry cardiomyopathy - diagnostic approach and current treatment.
abstract: Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency. The intracellular storage of globotriaosylceramides in different tissues and organs leads to a multisystemic disease affecting kidneys, nervous system and the heart. Fabry cardiomyopathy is frequent and leads to concentric left-ventricular hypertrophy. Typical pattern in advanced stages is myocardial replacement fibrosis, first localized to mid myocardial layers of postero-lateral basal myocardium and then spreading to transmural fibrosis.Long term prognosis is dependent on timely initiation of specific and concomitant therapies, while therapy in advanced stages is only able to stabilize the organ affection. This review describes the characteristics of Fabry cardiomyopathy, shows the clinical assessment of cardiac involvement and highlights therapeutic issues aiming at the best outcome for patients with Fabry disease.
authors.forename: Frank
authors.initials: F
authors.lastname: Weidemann
authors.forename: Georg
authors.initials: G
authors.lastname: Ertl
authors.forename: Christoph
authors.initials: C
authors.lastname: Wanner
authors.affiliation: Medizinische Klinik und Poliklinik I, Universitätsklinik Wurzburg, Oberduerrbacher Str. 6, 97080 Würzburg, Germany. Weidemann_F@medizin.uni-wuerzburg.de.
authors.forename: Johannes
authors.initials: J
authors.lastname: Krämer
mesh_terms: D009202:Cardiomyopathies / Q000175:diagnosis* / Q000188:drug therapy* / Q000503:physiopathology; D000795:Fabry Disease / Q000175:diagnosis* / Q000188:drug therapy* / Q000503:physiopathology; D006801:Humans