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