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.

Esposito, R., Santoro, C., Mandoli, G.E., Cuomo, V., Sorrentino, R., La Mura, L., et al. (2021). Cardiac imaging in anderson-fabry disease: past, present and future. JOURNAL OF CLINICAL MEDICINE, 10(9), 1-16 [10.3390/jcm10091994].

Cardiac imaging in anderson-fabry disease: past, present and future

Mandoli G. E.;D'ascenzi F.;Cameli M.
2021-01-01

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.
2021
Esposito, R., Santoro, C., Mandoli, G.E., Cuomo, V., Sorrentino, R., La Mura, L., et al. (2021). Cardiac imaging in anderson-fabry disease: past, present and future. JOURNAL OF CLINICAL MEDICINE, 10(9), 1-16 [10.3390/jcm10091994].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/1178647