title: Role of cardiac MRI in evaluating patients with Anderson-Fabry disease: assessing cardiac effects of long-term enzyme replacement therapy.
abstract: OBJECTIVE
  Anderson-Fabry disease is a multisystemic disorder of lipid metabolism secondary to X-chromosome alterations and is frequently associated with cardiac manifestations such as left ventricular (LV) hypertrophy, gradually leading to an alteration in cardiac performance. The purpose of this study was to monitor, using magnetic resonance imaging (MRI), any changes produced by enzyme replacement therapy with agalsidase beta at the cardiac level in patients with Anderson-Fabry disease.
  
  
  METHODS
  Sixteen (ten men, six women) patients with genetically confirmed Anderson-Fabry disease underwent cardiac MRI before starting enzyme replacement therapy (baseline study) and after 48 months of treatment with agalsidase beta at the dose of 1 mg/kg (follow-up study).
  
  
  RESULTS
  After 48 months of treatment, a significant reduction in LV mass and wall thickness was observed: 187±59 g vs. 149±44 g, and 16±3 mm vs. 13±3 mm, respectively. A significant reduction in T2 relaxation time was noted at the level of the interventricular septum (81±3 ms vs. 67±7 ms), at the apical level (80±8 ms vs. 63±6 ms) and at the level of the lateral wall (82±8 ms vs. 63±10 ms) (p<0.05). No significant variation was observed in ejection fraction between the two studies (65±3% vs. 64±2%; p>0.05) (mean bias 1.0); however, an improvement was noted in the New York Heart Association (NYHA) class of the majority of patients (12/16) (p<0.05).
  
  
  CONCLUSIONS
  In patients with Anderson-Fabry disease undergoing enzyme replacement therapy with agalsidase beta, MRI documented a significant reduction in myocardial T2 relaxation time, a significant decrease in maximal myocardial thickness and in total LV mass. MRI did not reveal significant improvements in LV global systolic function; however, improvement in NYHA functional class was noted, consistent with improved diastolic function.
authors: Dipartimento di Scienze Biomorfologiche e Funzionali, Università degli Studi Federico II, Napoli, Italy.
authors: G
authors: G
authors: Messalli
authors: M
authors: M
authors: Imbriaco
authors: G
authors: G
authors: Avitabile
authors: R
authors: R
authors: Russo
authors: D
authors: D
authors: Iodice
authors: L
authors: L
authors: Spinelli
authors: S
authors: S
authors: Dellegrottaglie
authors: F
authors: F
authors: Cademartiri
authors: M
authors: M
authors: Salvatore
authors: A
authors: A
authors: Pisani
mesh_terms: D000328:Adult; D056947:Enzyme Replacement Therapy / Q000379:methods*; D000795:Fabry Disease / Q000188:drug therapy* / Q000503:physiopathology*; D005260:Female; D006331:Heart Diseases / Q000175:diagnosis* / Q000503:physiopathology*; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use*; D019028:Magnetic Resonance Imaging, Cine / Q000379:methods*; D008297:Male; D012307:Risk Factors; D014672:Vectorcardiography; D000519:alpha-Galactosidase / Q000627:therapeutic use*
chemical_list: D007527:Isoenzymes; D000519:alpha-Galactosidase; C459420:agalsidase beta