ReviewDiagnostics (Basel, Switzerland)2024
Anderson-Fabry Disease: Red Flags for Early Diagnosis of Cardiac Involvement.
Review in Diagnostics (Basel, Switzerland), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed, 13 citations in OpenAlex.
- Differential diagnosis of hypertrophic cardiomyopathy, fabry cardiomyopathy and cardiac amyloidosis: insights from right ventricular strain imaging echocardiography.The international journal of cardiovascular imaging · 2026Article
- Pathophysiological mechanisms of organ injury in Fabry disease: Update via multi-omics.Genes & diseases · 2026Review
- Cardiological aspects of Fabry disease: from diagnosis to therapeutic efficacy assessment.Orphanet journal of rare diseases · 2026Review
- VCAM-1 as a biomarker of early cardiac phenotypic changes in Fabry disease.BMC cardiovascular disorders · 2026Article
- Could Fabry Disease Cause Giant Coronary Aneurysms in a 7-Month-Old Infant: A Case Report.Clinical case reports · 2026Article
- MiR-19a-3p: a potential biomarker for predicting cardiac risk in anderson-fabry disease.Journal of cardiothoracic surgery · 2026Article
- Sphingolipidoses: expanding the spectrum of α-synucleinopathies.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Early diagnosis of cardiac involvement in Anderson-Fabry disease using cardiac MRI parameters.Future cardiology · 2025Review
- Hypertrophic Cardiomyopathy: Current Perspectives.Reviews in cardiovascular medicine · 2025Review
- Anderson-Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies.Diagnostics (Basel, Switzerland) · 2025Review
- Article
- Are Endomyocardial Ventricular Biopsies Useful for Assessing Myocardial Fibrosis?Journal of clinical medicine · 2024Article
- Exploring the Perioperative Use of DOACs, off the Beaten Track.Journal of clinical medicine · 2024Review
- Italian Association of Hospital Cardiologists Position Paper 'Gender discrepancy: time to implement gender-based clinical management'.European heart journal supplements : journal of the European Society of Cardiology · 2024Article
- Heart Failure with Preserved Ejection Fraction: How to Deal with This Chameleon.Journal of clinical medicine · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 15 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Anderson-Fabry disease (AFD) is a lysosome storage disorder resulting from an X-linked inheritance of a mutation in the galactosidase A (GLA) gene encoding for the enzyme alpha-galactosidase A (α-GAL A). This mutation results in a deficiency or absence of α-GAL A activity, with a progressive intracellular deposition of glycosphingolipids leading to organ dysfunction and failure. Cardiac damage starts early in life, often occurring sub-clinically before overt cardiac symptoms. Left ventricular hypertrophy represents a common cardiac manifestation, albeit conduction system impairment, arrhythmias, and valvular abnormalities may also characterize AFD. Even in consideration of pleiotropic manifestation, diagnosis is often challenging. Thus, knowledge of cardiac and extracardiac diagnostic "red flags" is needed to guide a timely diagnosis. Indeed, considering its systemic involvement, a multidisciplinary approach may be helpful in discerning AFD-related cardiac disease. Beyond clinical pearls, a practical approach to assist clinicians in diagnosing AFD includes optimal management of biochemical tests, genetic tests, and cardiac biopsy. We extensively reviewed the current literature on AFD cardiomyopathy, focusing on cardiac "red flags" that may represent key diagnostic tools to establish a timely diagnosis. Furthermore, clinical findings to identify patients at higher risk of sudden death are also highlighted.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.