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)

Abstract Background Fabry disease (FD) is a rare hereditary disorder that results in the accumulation of glycosphingolipids in multiple organs, including the heart 1. Cardiac magnetic resonance (CMR) plays a key role in the evaluation of cardiac involvement in FD 1. Since 2016, an Italian cardiovascular hospital has promoted a network of several referral centers for FD (CIRCLE-FD - CMR Italian Research and CLinical nEtwork for Fabry Disease): more than 200 FD patients have undergone CMR with T1 and T2 mapping. Objective Given the high cost of CMR, both economically and in terms of patient commitment, we aim to test the impact of CMR data in the clinical management of FD patients. Methods An online REDCap survey was submitted to all the CIRCLE-FD clinicians who referred FD patients for CMR between January 2016 and October 2024. The clinicians were asked to complete a simple questionnaire for each referred patient, answering two main questions: (i) Did CMR play a critical role in the clinical management of this patient? If yes, how? (ii) Which CMR parameter was most useful for this purpose? Results 191 questionnaires were completed by 17 clinicians. Most referred patients were female (59%), aged 40-60 years (41%), LVH negative (67%) with no LGE (74%) and low myocardial T1 (61%). CMR was considered crucial in the management of 138 (72%) FD patients (Figure 1): in 116 cases to decide whether to start, not to start or replace FD-specific therapy; in 32 cases to make cardiac therapy decisions (ICD or loop-recorder implantation, changes in pharmacological therapy, ordering of further diagnostic tests); in 68 cases to decide whether to extend or shorten clinical follow-up; in 65 cases for more than one of the above options. Overall, the CMR data that was considered the most useful was the myocardial T1 value (53%), followed by the severity of LVH expressed as LV mass (29%) and LGE extension (18%) (Figure 2). Native T1 data were particularly useful in young patients to decide whether to initiate FD-specific therapies and to determine the timing of follow-up. In FD patients with advanced cardiac involvement, CMR quantification of the degree of LVH, T1 status and LGE enhancement mainly supported decisions regarding cardiac therapy. Conclusions Based on clinicians’ opinion, CMR performed within the CIRCLE-FD network had a significant impact on the clinical management of FD patients. To optimize its effectiveness, CMR should be performed by expert imagers in close contact with referring clinicians, including T1 and T2 mapping in the scan protocol, with the aim of answering clinical questions and collecting valuable data for focused research projects.FIGURE 1 FIGURE 2