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Massimo Imbriaco, Carmela Nappi, Andrea Ponsiglione, Antonio Pisani, Serena Dell’Aversana, Emanuele Nicolai, Letizia Spinelli, Marco Aiello, Claudio Tommaso Diomiaiuti, Eleonora Riccio, Roberta Esposito, Maurizio Galderisi, Mariangela Losi, Andreas Greiser, Kelvin Chow, Alberto Cuocolo, Hybrid positron emission tomography-magnetic resonance imaging for assessing different stages of cardiac impairment in patients with Anderson–Fabry disease: AFFINITY study group, European Heart Journal - Cardiovascular Imaging, Volume 20, Issue 9, September 2019, Pages 1004–1011, https://doi.org/10.1093/ehjci/jez039
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Abstract
Anderson–Fabry disease (AFD) is an X-linked lysosomal storage disorder associated with multi-organ dysfunction. While native myocardial T1 mapping by magnetic resonance (MR) allow non-invasive measurement of myocyte sphingolipid accumulation, 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography (PET) and MR are able to identify different pathological patterns of disease progression. We investigated the relationship between T1 mapping and 18F-FDG uptake by hybrid PET-MR cardiac imaging in AFD female patients.
Twenty AFD females without cardiac symptoms underwent cardiac PET-MR using 18F-FDG for glucose uptake. In all patients and in seven age- and sex-matched control subjects, T1 mapping was performed using native T1 Modified Look-Locker Inversion-recovery prototype sequences. 18F-FDG myocardial uptake was quantified by measuring the coefficient of variation (COV) of the standardized uptake value using a 17-segment model. T1 values of AFD patients were lower compared with control subjects (1236 ± 49 ms vs. 1334 ± 27 ms, P < 0.0001). Focal 18F-FDG uptake with COV >0.17 was detected in seven patients. COV was 0.32 ± 0.1 in patients with focal 18F-FDG uptake and 0.12 ± 0.04 in those without (P < 0.001). Patients with COV >0.17 had higher T1 values of lateral segments of the mid ventricular wall, compared with those with COV ≤0.17 (1216 ± 22 ms vs. 1160 ± 59 ms, P < 0.05).
In females with AFD, focal 18F-FDG uptake with a trend towards a pseudo-normalization of abnormal T1 mapping values, may represent an intermediate stage before the development of myocardial fibrosis. These findings suggest a potential relationship between progressive myocyte sphingolipid accumulation and inflammation.
