title: MR-based analysis of regional cardiac function in relation to cellular integrity in Fabry disease.
abstract: BACKGROUND
  Fabry cardiomyopathy is characterized by left ventricular (LV) hypertrophy and regional fibrosis. Recent high-end echocardiography studies of selected LV sections suggest an interrelation between regional fibrosis, impaired function, and hypertrophy possibly changing under specific enzyme replacement therapy (ERT).
  
  
  METHODS
  Magnetic resonance imaging (MRI) was used for a region dependent study of cardiac function, morphology and late enhancement (LE) in 25 Fabry patients before and after 12 months of ERT in comparison to 43 healthy volunteers.
  
  
  RESULTS
  Fabry patients presented with LV increased wall thickness (EDWT) and reduced wall thickening (WT) with a focus on basal and midventricular regions corresponding to areas of LE. The degree of hypertrophy and hypokinesia were the highest if LE was detectable. A significant decrease of the EDWT under ERT was observed in LE negative patients accompanied by a decline of hypokinesia with regional differences.
  
  
  CONCLUSIONS
  Regional differences of LV hypertrophy and wall motion were detected corresponding to the distribution of myocardial fibrosis (LE). Functional impairment was closely restricted to fibrotic regions while morphologic changes slightly exceeded the areas of fibrosis. ERT resulted in regional improvements whereby absence of fibrosis was connected to a better outcome.
authors.affiliation: Institute of Radiology, Wuerzburg University, Josef-Schneider-Str. 2, 97080 Wuerzburg, Germany.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Koeppe
authors.forename: Henning
authors.initials: H
authors.lastname: Neubauer
authors.forename: Frank
authors.initials: F
authors.lastname: Breunig
authors.forename: Frank
authors.initials: F
authors.lastname: Weidemann
authors.forename: Christoph
authors.initials: C
authors.lastname: Wanner
authors.forename: Jörn
authors.initials: J
authors.lastname: Sandstede
authors.forename: Wolfram
authors.initials: W
authors.lastname: Machann
authors.forename: Dietbert
authors.initials: D
authors.lastname: Hahn
authors.forename: Herbert
authors.initials: H
authors.lastname: Köstler
authors.forename: Meinrad
authors.initials: M
authors.lastname: Beer
mesh_terms: D000293:Adolescent; D000328:Adult; D004452:Echocardiography; D056947:Enzyme Replacement Therapy / Q000379:methods*; D000795:Fabry Disease / Q000150:complications / Q000503:physiopathology*; D005260:Female; D006321:Heart / Q000503:physiopathology*; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000150:complications / Q000000981:diagnostic imaging / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D055815:Young Adult