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European Journal of Nuclear Medicine and Molecular Imaging
Published in: European Journal of Nuclear Medicine and Molecular Imaging 7/2015

01-06-2015 | Original Article

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

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

Published in: European Journal of Nuclear Medicine and Molecular Imaging | Issue 7/2015

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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.
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Metadata
Title
First experience of simultaneous PET/MRI for the early detection of cardiac involvement in patients with Anderson-Fabry disease
Authors
Carmela Nappi
Michele Altiero
Massimo Imbriaco
Emanuele Nicolai
Caterina Anna Giudice
Marco Aiello
Claudio Tommaso Diomiaiuti
Antonio Pisani
Letizia Spinelli
Alberto Cuocolo
Publication date
01-06-2015
Publisher
Springer Berlin Heidelberg
Published in
European Journal of Nuclear Medicine and Molecular Imaging / Issue 7/2015
Print ISSN: 1619-7070
Electronic ISSN: 1619-7089
DOI
https://doi.org/10.1007/s00259-015-3036-3

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