The Value of Advanced Cardiac Magnetic Resonance Imaging Technologies in Detecting the Characteristics of Cardiac Involvement in Anderson-Fabry Disease

Abstract Introduction: Anderson-Fabry disease (AFD) is a genetic disorder associated with cardiac involvement. Advanced cardiac magnetic resonance (CMR) technologies, including T1 mapping and gadolinium-enhanced CMR, have been used to detect and evaluate cardiac involvement in AFD patients. However, there is limited information on the characteristic CMR manifestations of cardiac involvement in Chinese AFD patients. Methods: In this cross-sectional study, clinical data were collected from patients with AFD diagnosed at this center from January 2022 to March 2023. Compared with echocardiography, CMR was used to evaluate cardiac function, the degree of cardiac structural lesions, and to analyze characteristic CMR findings of cardiac involvement in AFD. Results: 20 patients with AFD from nine families were included. This study showed that left ventricular hypertrophy (LVH) was detected in 85% of patients (18.41 ± 4.56 mm) by CMR, whereas echocardiography identified LVH in only 65% of patients (16.86 ± 2.74 mm), suggesting that echocardiography may underestimate the severity of LVH in AFD patients (P=0.001). Moreover, all patients exhibited characteristic CMR findings of cardiac involvement in AFD, including decreased T1 values (95% of patients) and late gadolinium enhancement (LGE) associated with myocardial fibrosis (55% of patients). Conclusion: This study demonstrated that CMR is a valuable tool for detecting and assessing cardiac involvement in AFD patients, providing characteristic CMR findings, including LVH, decreased T1 values, and LGE associated with myocardial fibrosis. Moreover, this study highlighted the diagnostic superiority of CMR over echocardiography in assessing LVH in AFD patients.