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 / R. Esposito, C. Santoro, G.E. Mandoli, V. Cuomo, R. Sorrentino, L. La Mura, M.C. Pastore, F. Bandera, F. D'Ascenzi, A. Malagoli, G. Benfari, A. D'Andrea, M. Cameli. - In: JOURNAL OF CLINICAL MEDICINE. - ISSN 2077-0383. - 10:9(2021), pp. 1994.1-1994.16. [10.3390/jcm10091994]
Cardiac imaging in anderson-fabry disease: Past, present and future
F. Bandera;
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.File | Dimensione | Formato | |
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