ReviewFrontiers in cardiovascular medicine2023
Anderson-Fabry disease cardiomyopathy: an update on epidemiology, diagnostic approach, management and monitoring strategies.
Review in Frontiers in cardiovascular medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 31 citations in OpenAlex.
- Genetic Modifiers of Cardiac Remodeling Severity in IVS4+919G>A-Associated Fabry Cardiomyopathy.International journal of molecular sciences · 2026Article
- Position Statement on Multimodal Cardiac Imaging in Patients with Systemic Diseases - 2026.Arquivos brasileiros de cardiologia · 2026Article
- Staging of Fabry cardiomyopathy in clinical practice: an algorithm proposal.International journal of cardiology. Heart & vasculature · 2026Article
- Fabry Disease: A Focus on the Role of Oxidative Stress.Antioxidants (Basel, Switzerland) · 2026Review
- Interpretation of cardiac magnetic resonance imaging of left ventricular hypertrophy: a practical guide.Polish journal of radiology · 2026Review
- Early diagnosis of cardiac involvement in Anderson-Fabry disease using cardiac MRI parameters.Future cardiology · 2025Review
- The Utility of High-Sensitivity Troponin to Detect Cardiomyopathy in Patients With Fabry Disease.JIMD reports · 2025Article
- Looking for Fabry, Finding More: LVH Screening Yields Unexpected Gaucher Diagnosis.Medical sciences (Basel, Switzerland) · 2025Article
- Unexpected Hypotension in a Female Patient with Fabry Disease: Switching from Agalsidase α to β after Long-term ERT.Internal medicine (Tokyo, Japan) · 2025Article
- Hydroxychloroquine Cardiotoxicity and Sarcomeric Hypertrophic Cardiomyopathy.JACC. Case reports · 2025Article
- Evaluating Second-Generation Deep Learning Technique for Noise Reduction in Myocardial T1-Mapping Magnetic Resonance Imaging.Diseases (Basel, Switzerland) · 2025Article
- Enzyme Replacement and Immunosuppression in Heart Transplant Recipients with Fabry Cardiomyopathy: A 7-Year Case Study.The American journal of case reports · 2025Article
- Article
- From thick walls to clear answers: approaches to diagnosing hypertrophic cardiomyopathy and its mimics.European heart journal supplements : journal of the European Society of Cardiology · 2025Article
- Anderson-Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies.Diagnostics (Basel, Switzerland) · 2025Review
- Cryo-ablation management of atrial fibrillation in Fabry disease without agalsidase alpha: a case report.Frontiers in cardiovascular medicine · 2025Article
- Overcoming Resistance in Anderson-Fabry Disease: Current Therapeutic Challenges and Future Perspectives.Journal of clinical medicine · 2024Article
- Incremental diagnostic and prognostic utility of left atrial deformation in heart failure using speckle tracking echocardiography.Heart failure reviews · 2024Review
- Cardiopulmonary determinants of reduced exercise tolerance in Fabry disease.Frontiers in cardiovascular medicine · 2024Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by deficient activity of the enzyme alpha-galactosidase. While AFD is recognized as a progressive multi-system disorder, infiltrative cardiomyopathy causing a number of cardiovascular manifestations is recognized as an important complication of this disease. AFD affects both men and women, although the clinical presentation typically varies by sex, with men presenting at a younger age with more neurologic and renal phenotype and women developing a later onset variant with more cardiovascular manifestations. AFD is an important cause of increased myocardial wall thickness, and advances in imaging, in particular cardiac magnetic resonance imaging and T1 mapping techniques, have improved the ability to identify this disease non-invasively. Diagnosis is confirmed by the presence of low alpha-galactosidase activity and identification of a mutation in the GLA gene. Enzyme replacement therapy remains the mainstay of disease modifying therapy, with two formulations currently approved. In addition, newer treatments such as oral chaperone therapy are now available for select patients, with a number of other investigational therapies in development. The availability of these therapies has significantly improved outcomes for AFD patients. Improved survival and the availability of multiple agents has presented new clinical dilemmas regarding disease monitoring and surveillance using clinical, imaging and laboratory biomarkers, in addition to improved approaches to managing cardiovascular risk factors and AFD complications. This review will provide an update on clinical recognition and diagnostic approaches including differentiation from other causes of increased ventricular wall thickness, in addition to modern strategies for management and follow-up.
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