title: Heart valve involvement in Fabry cardiomyopathy.
abstract: Fabry disease is a rare X-linked lysosomal storage disorder leading to an accumulation of glycosphingolipids in all tissues and organs including the heart. Among the pathologies of myocardial involvement, reviews and registry data list affection of heart valves and its hemodynamic significance as predominant alterations during progression of the disease. We thought to approach this uncertainty with a systematic observational study. In a single center study, 111 patients with genetically proven Fabry disease were systematically investigated by echocardiography for abnormalities of the valves in the left (aortic and mitral valve) and right heart (pulmonary and tricuspid valve). In addition, 60 patients were followed by echocardiography for 2.7 +/- 1.5 y (range 1 to 6). Both valve stenosis and regurgitation were classified as mild, moderate or severe. Overall, no patient had severe heart valve abnormalities. The most frequent findings were mild aortic (n = 17), mitral (n = 57) and tricuspid (n = 38) valve regurgitation. Only two patients showed mild aortic valve stenosis. Moderate aortic (n = 1), mitral (n = 2) or tricuspid (n = 1) regurgitation were rarely detected. All Fabry patients in advanced stages (n = 9) had only mild mitral regurgitation and one of them had mild aortic and mitral regurgitation, moderate tricuspid regurgitation and mild aortic stenosis. Thirty patients had completely normal valve function. There was no significant change toward hemodynamic relevant heart valve abnormalities during follow-up. Mild left ventricular valve regurgitations are frequent in Fabry disease. However, these valve abnormalities are not the major limitations for the Fabry heart.
authors.affiliation: Department of Internal Medicine/Centres of Rare Diseases and Cardiovascular Medicine, Würzburg, Germany. weidemann_f@medizin.uni-wuerzburg.de
authors.forename: Frank
authors.initials: F
authors.lastname: Weidemann
authors.forename: Joerg M
authors.initials: JM
authors.lastname: Strotmann
authors.forename: Markus
authors.initials: M
authors.lastname: Niemann
authors.forename: Sebastian
authors.initials: S
authors.lastname: Herrmann
authors.forename: Mario
authors.initials: M
authors.lastname: Wilke
authors.forename: Meinrad
authors.initials: M
authors.lastname: Beer
authors.forename: Wolfram
authors.initials: W
authors.lastname: Voelker
authors.forename: Georg
authors.initials: G
authors.lastname: Ertl
authors.forename: Andrea
authors.initials: A
authors.lastname: Emmert
authors.forename: Christoph
authors.initials: C
authors.lastname: Wanner
authors.forename: Frank
authors.initials: F
authors.lastname: Breunig
mesh_terms: D000328:Adult; D001022:Aortic Valve Insufficiency / Q000000981:diagnostic imaging; D018450:Disease Progression; D015150:Echocardiography, Doppler / Q000379:methods; D000795:Fabry Disease / Q000000981:diagnostic imaging*; D005260:Female; D005500:Follow-Up Studies; D006349:Heart Valve Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008944:Mitral Valve Insufficiency / Q000000981:diagnostic imaging; D014262:Tricuspid Valve Insufficiency / Q000000981:diagnostic imaging; D055815:Young Adult