Anderson-Fabry disease (AFD) is a multisystem X-linked disorder of lipid metabolism frequently associated with progressive glycosphingolipid accumulation in cardiac, renal, and nervous cells. The diagnosis of AFD is usually assessed by enzyme assay and genetic tests, but advanced cardiac imaging can be useful in detecting early signs of the disease. Echocardiography and cardiac magnetic resonance are the first-line imaging modalities to investigate cardiac involvement in AFD, but the recent introduction of new molecular and hybrid imaging techniques opens to a wider range of diagnostic applications. This article aims to provide an overview of nuclear cardiology techniques in diagnosis and clinical management of AFD.
Keywords: Cardiomyopathy; MRI; PET; hybrid imaging; multimodality.
© 2020. American Society of Nuclear Cardiology.