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 glycosphin-golipids 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.
Cardiac imaging in anderson-fabry disease: Past, present and future / Esposito, R.; Santoro, C.; Mandoli, G. E.; Cuomo, V.; Sorrentino, R.; La Mura, L.; Pastore, M. C.; Bandera, F.; D'Ascenzi, F.; Malagoli, A.; Benfari, G.; D'Andrea, A.; Cameli, M.. - In: JOURNAL OF CLINICAL MEDICINE. - ISSN 2077-0383. - 10:9(2021), p. 1994. [10.3390/jcm10091994]
Cardiac imaging in anderson-fabry disease: Past, present and future
Esposito R.;Santoro C.;Sorrentino R.;La Mura L.;Cameli M.
2021
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 glycosphin-golipids 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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
