ArticleFrontiers in cardiovascular medicine2026
Case Report: Fabry disease mimicking coronary artery disease and hypertrophic cardiomyopathy-a 15-year diagnostic delay.
Article in Frontiers in cardiovascular medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Fabry disease is a rare X-linked hereditary lysosomal storage disorder. Its cardiac manifestations often overlap with those of hypertrophic cardiomyopathy or coronary artery disease, leading to significant delays in diagnosis. Case summary: A 60-year-old male patient presented with exertional angina pectoris, which had persisted for 15 years. Initially diagnosed with coronary artery disease, he underwent percutaneous coronary intervention. Despite successful revascularization, he subsequently developed progressive left ventricular hypertrophy, heart failure, bilateral hearing loss, dizziness, and white matter lesions in the brain. Cardiac magnetic resonance imaging revealed mid-myocardial striae-like late gadolinium enhancement and left ventricular high voltage on electrocardiography, raising a strong suspicion of Fabry disease. Plasma α-galactosidase A activity was significantly decreased (0.62 μmol/L), and genetic testing identified a hemizygous pathogenic variant in the Discussion: This case highlights the challenges in identifying Fabry disease in patients with coexisting coronary artery disease and left ventricular hypertrophy. It emphasizes the diagnostic value of multi-system involvement and characteristic imaging findings. A diagnostic pathway incorporating clinical warning signs, cardiac magnetic resonance imaging, enzymatic assays, and genetic testing can help reduce diagnostic delays.
Indexed as
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.