ReviewNPJ cardiovascular health2025
Cardiac manifestations of Fabry disease.
Review in NPJ cardiovascular health, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
6 citing papers in PubMed.
- Review
- VCAM-1 as a biomarker of early cardiac phenotypic changes in Fabry disease.BMC cardiovascular disorders · 2026Article
- Review
- The impact of cardiovascular risk factors in non-classical Fabry disease.Orphanet journal of rare diseases · 2026Article
- Fabry Disease: A Focus on the Role of Oxidative Stress.Antioxidants (Basel, Switzerland) · 2026Review
- Case Report: Fabry disease presenting with electrocardiographic findings mimicking acute myocardial infarction: a diagnostic challenge.Frontiers in cardiovascular medicine · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease (FD, OMIM #301500) is a lysosomal disease caused by the inappropriate accumulation of globotriaosylceramide in tissues due to a functional deficiency in the enzyme α-galactosidase A. Fabry cardiomyopathy is now the most common cause of mortality in patients with FD. Large-scale metabolic and genetic screening studies have revealed FD to be more prevalent than previously thought and the later-onset variant form of FD represents an unrecognized health burden. Genetic testing is critical for the diagnosis of FD and echocardiography with strain imaging and cardiac magnetic resonance imaging using late-enhancement and T1 mapping are important imaging tools. Current therapies for FD are enzyme replacement therapy and, in patients with an amenable GLA pathogenic variant, pharmacological chaperone therapy, which can prevent FD progression, while gene therapy and the use of substrate reduction therapy represent promising novel therapies.
Identifiers
What OpenQuestion holds
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.