Abstract: |
Anderson-Fabry Disease (AFD) is a rare X-linked hereditary disorder caused by a deficiency of the enzyme alpha-galactosidase A, leading to the accumulation of globotriaosylceramide (Gb3) in multiple organs, including kidneys and the cardiovascular system. This study explores the role of deep learning techniques in the analysis of cardiac imaging data for the early detection and monitoring of AFD-related cardiac involvement. Using advanced image processing algorithms, we aim to improve diagnostic accuracy, assess myocardial fibrosis progression, and facilitate personalized patient management. Our findings highlight the potential of artificial intelligence in enhancing diagnostic workflows, reducing variability in interpretation, and aiding clinicians in making more informed decisions. Furthermore, the use of non-invasive imaging techniques and Native T1 sequences for mapping studies in cardiac magnetic resonance imaging (CMR) could reduce the need for contrast. |