The role of cardiovascular multimodality imaging in the evaluation of Anderson–Fabry disease: from early diagnosis to therapy monitoring
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.
Authors
- Angelos G. Rigopoulos (ORCID: https://orcid.org/0000-0003-0735-2319)
- Antonio Luca Brucato (ORCID: https://orcid.org/0000-0002-7566-5600)
- Mary N. Sheppard (ORCID: https://orcid.org/0000-0003-2724-3881)
- Alessia Gimelli (ORCID: https://orcid.org/0000-0003-3378-1723)
- Lia Crotti (ORCID: https://orcid.org/0000-0001-8739-6527)
- Antonios Pantazis (ORCID: https://orcid.org/0000-0001-5952-6187)
- Leyla Elif Sade (ORCID: https://orcid.org/0000-0003-3737-8595)
- Giulia Elena Mandoli (ORCID: https://orcid.org/0000-0002-3184-3006)
- George A. Lazaros (ORCID: https://orcid.org/0000-0003-2802-9617)
- Denisa Muraru (ORCID: https://orcid.org/0000-0003-2514-3668)
- Karin Klingel (ORCID: https://orcid.org/0000-0003-0203-2498)
- Maurizio Pieroni (ORCID: https://orcid.org/0000-0002-6830-4292)
- Massimo Imazio (ORCID: https://orcid.org/0000-0002-5722-0245)
- Maria Concetta Pastore (ORCID: https://orcid.org/0000-0002-7223-141X)
- Marco Merlo (ORCID: https://orcid.org/0000-0002-1022-3131)
- Silvia Castelletti (ORCID: https://orcid.org/0000-0001-9693-4083)
- Marc R. Dweck (ORCID: https://orcid.org/0000-0001-9847-5917)
- Petr Kuchynka (ORCID: https://orcid.org/0000-0002-1816-5634)
- Andrea Frustaci (ORCID: https://orcid.org/0000-0002-5748-0725)
- Steffen Erhard Petersen (ORCID: https://orcid.org/0000-0003-4622-5160)
- Arsen Ristić (ORCID: https://orcid.org/0000-0002-0713-1180)
- Matteo Cameli (ORCID: https://orcid.org/0000-0003-3872-8964)
- James Moon (ORCID: https://orcid.org/0009-0009-4195-6694)
- Johanna Kuusisto
- Carsten Tschöepe
Institutions
- University of Siena (IT)
- St Bartholomew's Hospital (GB)
- St George's Hospital (GB)
- University of Trieste (IT)
- Vita-Salute San Raffaele University (IT)
- University of Pittsburgh (US)
- University of Eastern Finland (FI)
- University of Milan (IT)
- National and Kapodistrian University of Athens (GR)
- Charles University (CZ)
- Barts Health NHS Trust (GB)
- Royal Brompton & Harefield NHS Foundation Trust (GB)
- British Heart Foundation (GB)
- University of Belgrade (RS)
- Fred Hutch Cancer Center (US)
- UPMC Health System (US)
- Center for Prevention and Treatment of Infections (US)
- Ospedale Santa Maria della Misericordia di Udine (IT)
- Mitera Hospital (GR)
- IRCCS Istituto Auxologico Italiano (IT)
- University of Pittsburgh Medical Center (US)
- The London College (GB)
- William Harvey Research Institute (GB)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Fondazione Toscana Gabriele Monasterio (IT)
- General University Hospital in Prague (CZ)
- Azienda Sanitaria Universitaria Integrata di Trieste (IT)
- Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele (IT)
- University of Florence (IT)
- University College London (GB)
- University of Milano-Bicocca (IT)
- Misericordia University (US)
- Charité - Universitätsmedizin Berlin (DE)
- University of Edinburgh (GB)
Publication Details
- Journal
- European Heart Journal - Cardiovascular Imaging
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1093/ehjci/jeaf038
- Citations
- 9
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 10.48