Cardiac Imaging in Anderson-Fabry Disease: Past, Present and Future

• Main Authors: Roberta Esposito, Ciro Santoro, Giulia Elena Mandoli, Vittoria Cuomo, Regina Sorrentino, Lucia La Mura, Maria Concetta Pastore, Francesco Bandera, Flavio D’Ascenzi, Alessandro Malagoli, Giovanni Benfari, Antonello D’Andrea, Matteo Cameli
• Format: Article
• Language: English
• Published: MDPI AG 2021-05-01
• Series: Journal of Clinical Medicine
• Subjects: Anderson-Fabry disease; echocardiography; cardiac involvement; cardiac imaging; multimodality imaging
• Online Access: https://www.mdpi.com/2077-0383/10/9/1994

Anderson-Fabrydisease is an X-linked lysosomal storage disorder caused by a deficiency in the lysosomal enzyme α-galactosidase A. This results in pathological accumulation of glycosphingolipids in several tissues and multi-organ progressive dysfunction. The typical clinical phenotype of Anderson-Fabry cardiomyopathy is progressive hypertrophic cardiomyopathy associated with rhythm and conduction disturbances. Cardiac imaging plays a key role in the evaluation and management of Anderson-Fabry disease patients. The present review highlights the value and perspectives of standard and advanced cardiovascular imaging in Anderson-Fabry disease.