title: The Fabry cardiomyopathy: models for the cardiologist.
abstract: Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency. Intracellular accumulation of globotriaosylceramide starts in utero and progressively develops in various tissues and organs. Cardiac involvement is frequent, and its presentation as concentric nonobstructive left ventricular hypertrophy serves as a model for other hypertrophic cardiomyopathies. This review describes the Fabry cardiomyopathy, its treatment, and multidisciplinary patient care models. These models will help clinicians in diagnosing, assessing, and treating patients with Fabry disease. As the models can be extrapolated to other diseases, they might contribute to more optimal clinical management of patients with other cardiac disorders.
authors.affiliation: Department of Medicine, Division of Cardiology, University Hospital, Wuerzburg, Germany. weidemann_f@medizin.uni-wuerzburg.de
authors.forename: Frank
authors.initials: F
authors.lastname: Weidemann
authors.forename: Markus
authors.initials: M
authors.lastname: Niemann
authors.forename: David G
authors.initials: DG
authors.lastname: Warnock
authors.forename: Georg
authors.initials: G
authors.lastname: Ertl
authors.forename: Christoph
authors.initials: C
authors.lastname: Wanner
mesh_terms: D009202:Cardiomyopathies / Q000175:diagnosis / Q000188:drug therapy* / Q000209:etiology*; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications*; D005260:Female; D006801:Humans; D008297:Male; D016896:Treatment Outcome; D014281:Trihexosylceramides / Q000378:metabolism; D000519:alpha-Galactosidase / Q000627:therapeutic use*
chemical_list: D014281:Trihexosylceramides; C018549:globotriaosylceramide; D000519:alpha-Galactosidase