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The role of cardiovascular multimodality imaging in the evaluation of Anderson-Fabry disease: from early diagnosis to therapy monitoring

. 2025 Apr 30 ; 26 (5) : 814-829.

Language English Country Great Britain, England Media print

Document type Consensus Development Conference, Journal Article

Anderson-Fabry disease (AFD) is a rare genetic disease with X-linked transmission characterized by a defect in the enzyme alpha-galactosidase A, 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 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 (Graphical Abstract), 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 and 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.

2nd Department of Medicine Department of Cardiovascular Medicine 1st Faculty of Medicine Charles University Prague and General University Hospital Prague Prague Czech Republic

Barts Heart Centre St Bartholomew's Hospital Barts Health NHS Trust West Smithfield EC1A 7BE London UK

British Heart Foundation Centre for Cardiovascular Science University of Edinburgh Edinburgh United Kingdom

Cardiopathology Institute for Pathology and Neuropathology University Hospital Tuebingen Tuebingen Germany

Cardiothoracic Department Santa Maria della Misericordia University Hospital Udine Italy

Cardiovascular Research Centre Royal Brompton and Harefield NHS Foundation Trust London UK

Center for Diagnosis and Treatment of Cardiomyopathies Cardiovascular Department Azienda Sanitaria Universitaria Giuliano Isontina University of Trieste Trieste Italy

Department of Adult Cardiology Mitera General Hospital Hygeia Group Athens Greece

Department of Biomedical and Clinical Sciences University of Milan Milan Italy

Department of Cardiac Imaging Fondazione Toscana G Monasterio Pisa Italy

Department of Cardiac Surgery University of Clinical Center of Serbia Belgrade Serbia

Department of Cardiology Charité Universitaetsmedizin Berlin Campus Virchow Klinikum Augustenburger Platz 1 Berlin 13353 Germany

Department of Cardiology IRCCS Istituto Auxologico Italiano San Luca Hospital Cardiomyopathy Unit Milan Italy

Department of Cardiovascular Pathology Cardiovascular and Genetics Research Institute St Georges Medical School London UK

Department of Experimental and Clinical Medicine University of Florence Careggi University Hospital Florence Italy

Department of Medical Biotechnologies Division of Cardiology University of Siena viale Bracci 16 53100 Siena Italy

Department of Medicine and Surgery University of Milano Bicocca Milan Italy

Institute of Cardiovascular Science University College London London UK

Institute of Clinical Medicine Internal Medicine University of Eastern Finland Kuopio Finland

IRCCS Istituto Auxologico Italiano Department of Cardiology San Luca Hospital Imaging Unit Milan Italy

IRCCS L Spallanzani Via Portuense 292 00149Rome Italy

NIHR Barts Biomedical Research Centre William Harvey Research Institute Queen Mary University London Charterhouse Square London EC1M 6BQ UK

Unit for Inherited and Rare Cardiovascular Diseases 1st Department of Cardiology Hippokration Hospital University of Athens Medical School Athens Greece

UPMC Heart and Vascular Institute University of Pittsburgh Pittsburgh PA USA

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