Anderson-Fabry (FD) disease is a rare X-linked disorder caused by different mutations in the Galactosidase a (GLA) gene, which leads to a-galactosidase A enzyme deficiency and the storage of glycosphingolipids in different kinds of organs, included the heart. This results in myocardial inflammation and left ventricular hypertrophy (LVH) and fibrosis. Echocardiography and cardiac magnetic resonance (C-MRI), in particular with new techniques, such as mapping analysis, late gadolinium enhancement (LGE) assessment and strain imaging, are important tools that allow a correct diagnosis, discriminating FD from other hypertrophic heart conditions. C-MRI is able to detect tissue alterations in the early stages of the disease, when an appropriate treatment could be more effective, and it has a fundamental role in monitoring therapy.
Anderson-fabry disease: role of traditional and new cardiac MRI techniques / G. Caredda, P.P. Bassareo, M.V. Cherchi, G. Pontone, J.S. Suri, L. Saba. - In: BRITISH JOURNAL OF RADIOLOGY. - ISSN 0007-1285. - 94:1124(2021 Aug 01), pp. 20210020.1-20210020.11. [10.1259/bjr.20210020]
Anderson-fabry disease: role of traditional and new cardiac MRI techniques
G. Pontone;
2021
Abstract
Anderson-Fabry (FD) disease is a rare X-linked disorder caused by different mutations in the Galactosidase a (GLA) gene, which leads to a-galactosidase A enzyme deficiency and the storage of glycosphingolipids in different kinds of organs, included the heart. This results in myocardial inflammation and left ventricular hypertrophy (LVH) and fibrosis. Echocardiography and cardiac magnetic resonance (C-MRI), in particular with new techniques, such as mapping analysis, late gadolinium enhancement (LGE) assessment and strain imaging, are important tools that allow a correct diagnosis, discriminating FD from other hypertrophic heart conditions. C-MRI is able to detect tissue alterations in the early stages of the disease, when an appropriate treatment could be more effective, and it has a fundamental role in monitoring therapy.File | Dimensione | Formato | |
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2021 BJR (Review - Role of CMR in Fabry disease).pdf
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