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

Roberta Esposito; Ciro Santoro; Giulia Elena Mandoli; Vittoria Cuomo; Regina Sorrentino; Lucia La Mura; Maria Concetta Pastore; Francesco Bandera; Flavio D’ascenzi; Alessandro Malagoli; Giovanni Benfari; Antonello D’andrea; Matteo Cameli

doi:10.3390/jcm10091994

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

Roberta Esposito, Ciro Santoro, Giulia Elena Mandoli, Vittoria Cuomo, Regina Sorrentino, Lucia La Mura, Maria Concetta Pastore, Francesco Bandera, Flavio D’ascenzi, Alessandro Malagoli, Giovanni Benfari, Antonello D’andrea, Matteo Cameli

Research output: Contribution to journal › Review article › peer-review

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.

Original language	English
Article number	1994
Journal	Journal of Clinical Medicine
Volume	10
Issue number	9
DOIs	https://doi.org/10.3390/jcm10091994
Publication status	Published - May 1 2021

Keywords

Anderson-Fabry disease
Cardiac imaging
Cardiac involvement
Echocardiography
Multimodality imaging

ASJC Scopus subject areas

Medicine(all)

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10.3390/jcm10091994

Cite this

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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.",

keywords = "Anderson-Fabry disease, Cardiac imaging, Cardiac involvement, Echocardiography, Multimodality imaging",

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AU - Esposito, Roberta

AU - Santoro, Ciro

AU - Mandoli, Giulia Elena

AU - Cuomo, Vittoria

AU - Sorrentino, Regina

AU - La Mura, Lucia

AU - Pastore, Maria Concetta

AU - Bandera, Francesco

AU - D’ascenzi, Flavio

AU - Malagoli, Alessandro

AU - Benfari, Giovanni

AU - D’andrea, Antonello

AU - Cameli, Matteo

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N2 - 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.

AB - 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.

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KW - Cardiac involvement

KW - Echocardiography

KW - Multimodality imaging

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

Abstract

Keywords

ASJC Scopus subject areas

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