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

J Clin Med. 2021 May 6;10(9):1994. doi: 10.3390/jcm10091994.

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.

Keywords: Anderson-Fabry disease; cardiac imaging; cardiac involvement; echocardiography; multimodality imaging.

Publication types

  • Review