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

Author:

Esposito Roberta,Santoro Ciro,Mandoli Giulia ElenaORCID,Cuomo VittoriaORCID,Sorrentino Regina,La Mura LuciaORCID,Pastore Maria ConcettaORCID,Bandera Francesco,D’Ascenzi FlavioORCID,Malagoli Alessandro,Benfari GiovanniORCID,D’Andrea AntonelloORCID,Cameli MatteoORCID

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.

Publisher

MDPI AG

Subject

General Medicine

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