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The role of cardiovascular multimodality imaging in the evaluation of Anderson-Fabry disease: from early diagnosis to therapy monitoring A clinical consensus statement of the ESC Working Group on Myocardial & Pericardial Diseases and the European Association of Cardiovascular Imaging of the ESC.

Cameli, M; Pieroni, M; Pastore, MC; Brucato, A; Castelletti, S; Crotti, L; Dweck, M; Frustaci, A; Gimelli, A; Klingel, K; et al. Cameli, M; Pieroni, M; Pastore, MC; Brucato, A; Castelletti, S; Crotti, L; Dweck, M; Frustaci, A; Gimelli, A; Klingel, K; Kuchynka, P; Kuusisto, J; Lazaros, G; Mandoli, GE; Merlo, M; Moon, J; Muraru, D; Pantazis, A; Rigopoulos, AG; Ristic, A; Elif Sade, L; Sheppard, MN; Tschoepe, C; Petersen, SE; Imazio, M (2025) The role of cardiovascular multimodality imaging in the evaluation of Anderson-Fabry disease: from early diagnosis to therapy monitoring A clinical consensus statement of the ESC Working Group on Myocardial & Pericardial Diseases and the European Association of Cardiovascular Imaging of the ESC. Eur Heart J Cardiovasc Imaging. ISSN 2047-2412 https://doi.org/10.1093/ehjci/jeaf038
SGUL Authors: Sheppard, Mary Noelle

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Abstract

Anderson-Fabry disease (AFD) is a rare genetic disease with X-linked transmission characterized by a defect in the enzyme alpha-galactosidase A (alpha-GAL), which impairs glycosphingolipid metabolism and leads to an excessive storage of globotriaosylceramide (Gb3) within lysosomes. AFD involves renal, cardiac, vascular, and nervous systems and is mainly observed in male patients with onset in childhood, although cardiac manifestation is often shown in adults. AFD cardiomyopathy is caused by the accumulation of Gb3 within myocytes first showed by left ventricular (LV) hypertrophy and diastolic dysfunction, leading to restrictive cardiomyopathy and systolic heart failure with biventricular involvement. The diagnosis of AFD cardiomyopathy may be insidious in the first stages and requires accurate differential diagnosis with other cardiomyopathies with hypertrophic phenotype. However, it is fundamental to promptly initiate specific therapies that have shown promising results, particularly for early treatment. A careful integration between clinical evaluation, genetic tests, and cardiac imaging is required to diagnose AFD with cardiac involvement. Basic and advanced echocardiography, cardiac magnetic resonance, and nuclear imaging may offer pivotal information for early diagnosis (Central illustration) and the management of these patients is often limited to centres with high expertise in the field. This clinical consensus statement, developed by experts from the European Society of Cardiology (ESC) Working Group on Myocardial & Pericardial Diseases and the European Association of Cardiovascular Imaging of the ESC, aims to provide practical advice for all clinicians regarding the use of multimodality imaging to simplify the diagnostic evaluation, prognostic stratification, and management of cardiac involvement in AFD.

Item Type: Article
Additional Information: This is a pre-copyedited, author-produced version of an article accepted for publication in European Heart Journal - Cardiovascular Imaging following peer review. The version of record Matteo Cameli, Maurizio Pieroni, Maria Concetta Pastore, Antonio Brucato, Silvia Castelletti, Lia Crotti, Marc Dweck, Andrea Frustaci, Alessia Gimelli, Karin Klingel, Petr Kuchynka, Johanna Kuusisto, George Lazaros, Giulia Elena Mandoli, Marco Merlo, James Moon, Denisa Muraru, Antonis Pantazis, Angelos G Rigopoulos, Arsen Ristic, Leyla Elif Sade, Mary N Sheppard, Carsten Tschöpe, Steffen E Petersen, Massimo Imazio, Yohann Bohbot, Maja Cikes, Pankaj Garg, Niall Keenan, Aniela Petrescu, Ivan Stankovic, Liliana Szabo, Valtteri Uusitalo, The role of cardiovascular multimodality imaging in the evaluation of Anderson–Fabry disease: from early diagnosis to therapy monitoring: A clinical consensus statement of the ESC Working Group on Myocardial and Pericardial Diseases and the European Association of Cardiovascular Imaging of the ESC, European Heart Journal - Cardiovascular Imaging, 2025;, jeaf038 is available online at: https://doi.org/10.1093/ehjci/jeaf038.
Keywords: Anderson-Fabry disease, diagnosis, imaging, left ventricular hypertrophy, treatment, Anderson-Fabry disease, imaging, diagnosis, treatment, left ventricular hypertrophy
SGUL Research Institute / Research Centre: Academic Structure > Cardiovascular & Genomics Research Institute
Academic Structure > Cardiovascular & Genomics Research Institute > Experimental Cardiology
Journal or Publication Title: Eur Heart J Cardiovasc Imaging
ISSN: 2047-2412
Language: eng
Dates:
DateEvent
4 February 2025Published Online
2 January 2025Accepted
Publisher License: Publisher's own licence
PubMed ID: 39903606
Web of Science ID: WOS:001429422200001
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/117299
Publisher's version: https://doi.org/10.1093/ehjci/jeaf038

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