The role of cardiovascular multimodality imaging in the evaluation of Anderson-Fabry disease: from early diagnosis to therapy monitoring
Language English Country Great Britain, England Media print
Document type Consensus Development Conference, Journal Article
PubMed
39903606
DOI
10.1093/ehjci/jeaf038
PII: 7998777
Knihovny.cz E-resources
- Keywords
- Anderson–Fabry disease, diagnosis, imaging, left ventricular hypertrophy, treatment,
- MeSH
- Early Diagnosis MeSH
- Diagnosis, Differential MeSH
- Child MeSH
- Adult MeSH
- Echocardiography methods standards MeSH
- Fabry Disease * diagnostic imaging therapy MeSH
- Consensus MeSH
- Humans MeSH
- Multimodal Imaging * methods standards MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Consensus Development Conference MeSH
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.
Cardiothoracic Department Santa Maria della Misericordia University Hospital Udine Italy
Cardiovascular Research Centre Royal Brompton and Harefield NHS Foundation Trust London UK
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 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 L Spallanzani Via Portuense 292 00149Rome Italy
UPMC Heart and Vascular Institute University of Pittsburgh Pittsburgh PA USA
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