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Congress: ECR25
Poster Number: C-20311
Type: Poster: EPOS Radiologist (educational)
Authorblock: H. Chau, P. Y. Wong, W. Y. Fung, K. F. J. Ma, H. Lee, Y. M. Leng, R. Chan; Kowloon/HK
Disclosures:
Hatty Chau: Nothing to disclose
Pui Yi Wong: Nothing to disclose
Wai Yuk Fung: Nothing to disclose
Ka Fai Johnny Ma: Nothing to disclose
Heather Lee: Nothing to disclose
Yong Mei Leng: Nothing to disclose
Rois Chan: Nothing to disclose
Keywords: Cardiac, MR, Imaging sequences, Metabolic disorders
Learning objectives To demonstrate the characteristic imaging features of Fabry disease (FD) cardiomyopathy on cardiac magnetic resonance imaging (MRI).
Read more Background FD is a rare X-linked genetic disorder resulting from the deficiency of the enzyme α-galactosidase A. This enzyme deficiency leads to the accumulation of glycosphingolipids, particularly in vascular endothelial cells and smooth muscle cells. Cardiac involvement is a significant complication, often manifesting as cardiomyopathy, which can lead to serious morbidity and mortality. Patients often experience left ventricular hypertrophy (LVH), arrhythmias and heart failure. Cardiac MRI is a crucial imaging modality for the quantitative and qualitative assessment of FD cardiomyopathy.  Identification...
Read more Findings and procedure details There are three stages of cardiac involvement in FD with different characteristics shown on cardiac MRI: Accumulation phase: normal or low native T1 mapping without LVH. Inflammation and myocyte hypertrophy phase: low native T1 mapping, presence of late gadolinium enhancement (LGE) with or without LVH. Fibrosis and impairment phase: pseudonormalization of native T1 mapping and extensive LGE. Main Imaging Features on Cardiac MRI:Left Ventricular Hypertrophy (LVH)LVH is the most common structural change reported in FD. Cardiac MRI is the gold standard for the assessment...
Read more Conclusion Cardiac MRI is an invaluable tool in the evaluation of FD cardiomyopathy. Recognising its key MRI features allows early diagnosis of disease, risk stratification to guide clinical management, and monitor disease progression.
Read more References Umer M, Kalra DK. Cardiac MRI in Fabry disease. Front Cardiovasc Med. 2023 Feb 2;9:1075639. doi: 10.3389/fcvm.2022.1075639.  MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001 Nov;38(11):769-75. doi: 10.1136/jmg.38.11.769. Nordin S, Kozor R, Medina-Menacho K, Abdel-Gadir A, Baig S, Sado DM, Lobascio I, Murphy E, Lachmann RH, Mehta A, Edwards NC, Ramaswami U, Steeds RP, Hughes D, Moon JC. Proposed Stages of Myocardial Phenotype Development...
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