First experience of simultaneous PET/MRI for the early detection of cardiac involvement in patients with Anderson-Fabry disease

Carmela Nappi, Michele Altiero, Massimo Imbriaco, Emanuele Nicolai, Caterina Anna Giudice, Marco Aiello, Claudio Tommaso Diomiaiuti, Antonio Pisani, Letizia Spinelli, Alberto Cuocolo

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: 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 18F-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). Conclusion: 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.

Original languageEnglish
Pages (from-to)1025-1031
Number of pages7
JournalEuropean Journal of Nuclear Medicine and Molecular Imaging
Volume42
Issue number7
DOIs
Publication statusPublished - Jun 1 2015

Keywords

  • Fabry disease
  • Hybrid imaging
  • Magnetic resonance imaging
  • Positron emission tomography

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Medicine(all)

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