Echocardiography in Anderson-Fabry Disease.
Fabry disease
cardiac imaging
cardiomyopathy
echocardiography
lysosomal storage disorders
speckle tracking
tissue Doppler
Journal
Reviews in cardiovascular medicine
ISSN: 1530-6550
Titre abrégé: Rev Cardiovasc Med
Pays: Singapore
ID NLM: 100960007
Informations de publication
Date de publication:
Jun 2022
Jun 2022
Historique:
received:
25
01
2022
revised:
17
04
2022
accepted:
27
04
2022
medline:
31
5
2022
pubmed:
31
5
2022
entrez:
30
7
2024
Statut:
epublish
Résumé
Echocardiography is the most common diagnostic tool to screen for Fabry cardiomyopathy as it is fast, non-invasive, low-cost, widely available, easily applicable and reproducible. Echocardiography is the first-line investigation, being useful in all the stages of the disease: (1) in gene-positive patients, to unveil signs of early cardiac involvement and allowing timely treatment; (2) in patients with overt cardiomyopathy to estimate the severity of cardiac involvement, the possible related complications, and the effect of treatment. Recently, advanced echocardiographic techniques, such as speckle tracking analysis, are offering new insights in the assessment of Fabry disease patients and in the differential diagnosis of cardiomyopathies with hypertrophic phenotype. The aim of this review is to provide a comprehensive overview on the cardiac structural and functional abnormalities described in Fabry disease by means of echocardiography.
Identifiants
pubmed: 39077168
doi: 10.31083/j.rcm2306201
pii: S1530-6550(22)00553-1
pmc: PMC11274060
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
201Informations de copyright
Copyright: © 2022 The Author(s). Published by IMR Press.
Déclaration de conflit d'intérêts
Francesca Graziani: Honoraria for presentations, board meetings and travel support from Amicus Therapeutics, Sanofi-Genzyme and Takeda. Antonia Camporeale: Honoraria for presentations and board meetings from Amicus Therapeutics, Sanofi-Genzyme and Takeda. Research grant from Amicus Therapeutics. Maurizio Pieroni: advisory board honoraria from Amicus Therapeutics and Sanofi Genzyme; he has received speaker honoraria from Amicus Therapeutics, Sanofi Genzyme, and Takeda. Rosa Lillo: Honoraria for board meetings and travel support from Amicus Therapeutics, Sanofi-Genzyme and Takeda. Maurizio Pieroni is serving as one of the Editorial Board members/Guest editors of this journal. We declare that Maurizio Pieroni had no involvement in the peer review of this article and has no access to information regarding its peer review. Full responsibility for the editorial process for this article was delegated to Jerome L. Fleg. Other authors have no conflicts of interest.