#3394 THE VALUE OF ADVANCED CARDIAC MAGNETIC RESONANCE IN DETECTING THE CHARACTERISTICS OF CARDIAC INVOLVEMENT IN ANDERSON-FABRY DISEASE

Abstract

Abstract Background and Aims Anderson-Fabry disease (AFD) is a rare X-linked inherited lysosomal storage disorder caused by GLA gene mutations. With the progression of the disease, end organ damages (such as renal and cardiac) will impair quality of life. For nephrologists, it is necessary to improve the early diagnosis ability of AFD and the ability to assess the involvement of multiple organs (especially the heart). Cardiac magnetic resonance (CMR) is more accurate than echocardiography in measuring myocardial thickness and mass. Moreover, with the gradual maturation of T1 Mapping and gadolinium-enhanced cardiac magnetic resonance, CMR has also been applied to evaluate cardiomyocyte injury. In this study, clinical data of patients with AFD were collected in order to study the value and advantages of advanced CMR technologies in evaluating cardiac function, cardiac structure and cardiomyocyte injury. Method In this prospective observational study, clinical and echocardiography data were collected from patients with AFD diagnosed at this center from January 2022 to September 2022. T1 Mapping and gadolinium-enhanced cardiac magnetic resonance were used to evaluate the cardiac function and the degree of cardiac structural lesions, and to analyze characteristic CMR findings of cardiac involvement in AFD. To clarify the value of CMR for the assessment of cardiac involvement in AFD compared with echocardiography. Results 13 patients (five women, eight men) with AFD were included (Table 1). When diagnosing reduced ejection fraction, two (15.4%) met CMR, and zero (0%) met echocardiography. When diagnosing left ventricular hypertrophy, 12 (92.3%, 18.56±2.74mm) met CMR, and ten (76.9%, 16.37±2.71mm) met echocardiography. Compared with CMR, echocardiography can significantly underestimate the severity of left ventricular hypertrophy (P = 0.043). Using T1 Mapping and gadolinium-enhanced cardiac magnetic resonance, characteristic CMR findings of cardiac involvement in AFD were found in all patients (Fig.1), included decreased T1 values (12 cases, 92.3%, 1104.00±44.69ms) and late gadolinium enhancement (LGE) (six, 46.2%). Conclusion Characteristic CMR findings of cardiac involvement in AFD are left ventricular hypertrophy, decreased T1 values, and LGE associated with myocardial fibrosis. Advanced CMR holds promise in subclinical detection of AFD.