Impact of cardiac magnetic resonance on the clinical management of patients with Fabry disease: Data from the CMR Italian research and CLinical nEtwork for Fabry disease (CIRCLE-FD)

Objectives: Since 2016, IRCCS Policlinico San Donato has led a network of referral centres for Fabry Disease (FD), performing over 350 cardiac magnetic resonance (CMR) scans with T1/T2 mapping in FD patients. A survey assessing the impact of CMR on the clinical management of FD patients was sent to the referring clinicians within this network, called CIRCLE-FD (CMR Italian Research and Clinical Network for FD). Results: Of the 217 questionnaires submitted, 191 (88 %) were completed by 17 clinicians. Most patients were female (59 %), aged 20-60 (74 %), left ventricle hypertrophy (LVH) negative (67 %) with no late gadolinium enhancement (LGE) (74 %) and low myocardial T1 (61 %). CMR was considered crucial in managing FD patients in 138 cases (72 %): in 116 cases to manage FD-specific therapy; in 32 cases to support decisions regarding cardiological therapy; in 68 cases to plan follow-up; and in 65 cases for more than one of the above options. Overall, the most useful CMR data was the T1 value (53 % of responses), followed by the severity of LVH (29 % of responses) and LGE extension (18 % of responses). The initiation of FD-specific therapies was prompted in LVHnegative patients with low T1, while follow-up was extended for patients, mainly females, with normal T1. Conclusions: CMR performed within the CIRCLE-FD was considered useful for managing FD patients. To optimise its efficacy, this examination should be performed by expert personnel and include T1/T2 mapping in the scan protocol, possibly with the purpose of answering clinical issues through research projects.