title: First experience of simultaneous PET/MRI for the early detection of cardiac involvement in patients with Anderson-Fabry disease.
abstract: OBJECTIVE
  Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder associated with severe multiorgan dysfunction and premature death. Early diagnosis and treatment strategies play a key role in patient outcome. We investigated the potential role of hybrid PET/MR imaging in the assessment of early cardiac involvement in AFD patients.
  
  
  METHODS
  Thirteen AFD patients without cardiac symptoms and with normal left ventricular function underwent simultaneous cardiac PET/MR imaging after administration of (18)F-FDG. Cardiac FDG uptake was quantified by measuring the standardized uptake value in 17 myocardial segments in each subject. The coefficient of variation (COV, i.e. the standard deviation divided by the average) of the uptake of the 17 segments was calculated as an index of heterogeneity in the heart.
  
  
  RESULTS
  Six patients exhibited focal late gadolinium enhancement (LGE) indicating intramyocardial fibrosis, and four of these also had positive short inversion time inversion recovery (STIR) sequences. All patients with LGE and positive STIR MR images showed focal FDG uptake in the corresponding myocardial segments indicating inflammation. Of the seven patients with negative LGE and STIR images, five showed homogeneous FDG cardiac uptake and two showed heterogeneous FDG uptake. The COV was significantly greater in patients with focal FDG uptake (0.25 ± 0.02) than in those without (0.14 ± 0.07, p < 0.01).
  
  
  CONCLUSIONS
  PET/MR imaging is clinically feasible for the early detection of cardiac involvement in patients with AFD. Further studies evaluating the role of hybrid PET/MR imaging in management of the disease in larger patient populations are warranted.
authors: Department of Advanced Biomedical Sciences, University Federico II, Naples, Italy.
authors: Carmela
authors: C
authors: Nappi
authors: Michele
authors: M
authors: Altiero
authors: Massimo
authors: M
authors: Imbriaco
authors: Emanuele
authors: E
authors: Nicolai
authors: Caterina Anna
authors: CA
authors: Giudice
authors: Marco
authors: M
authors: Aiello
authors: Claudio Tommaso
authors: CT
authors: Diomiaiuti
authors: Antonio
authors: A
authors: Pisani
authors: Letizia
authors: L
authors: Spinelli
authors: Alberto
authors: A
authors: Cuocolo
mesh_terms: D000328:Adult; D042241:Early Diagnosis; D000795:Fabry Disease / Q000000981:diagnostic imaging*; D005260:Female; D005355:Fibrosis / Q000000981:diagnostic imaging; D019788:Fluorodeoxyglucose F18; D006352:Heart Ventricles / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D064847:Multimodal Imaging; D049268:Positron-Emission Tomography; D019275:Radiopharmaceuticals
chemical_list: D019275:Radiopharmaceuticals; D019788:Fluorodeoxyglucose F18