ArticleCureus2025
In Thickness and in Health: Delayed-Onset Pompe Disease Resembling Hypertrophic Cardiomyopathy.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.
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
1 citing paper in PubMed, 1 synthesis or guideline pooled it.
- Cardiac magnetic resonance in Pompe disease: a systematic literature review.La Radiologia medica · 2026Pooled it
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Delayed-onset Pompe disease is an extremely rare genetic disease in adults and should be considered in patients with severe left ventricular hypertrophy with left ventricular outflow tract (LVOT) obstruction due to its resemblance to hypertrophic cardiomyopathy (HCM). A case of a 58-year-old woman with no known comorbidities with excellent functional capacity presented because of the gradual onset of exertional dyspnea associated with fatigue, diminished exercise tolerance, occasional exertional chest tightness, and lightheadedness. The electrocardiogram showed left ventricular hypertrophy with T wave inversion in the anterolateral leads. Transthoracic echocardiogram and cardiac magnetic resonance (CMR) showed HCM with LVOT obstruction. Nuclear cardiac scintigraphy was unremarkable for transthyretin cardiac amyloidosis. The patient received a beta blocker and cardiac myosin inhibitor but experienced no change in symptoms. She had a ventriculomyotomy-myectomy and mitral valve repair, which significantly improved her symptoms and resolved the LVOT obstruction. Histology revealed myocyte hypertrophy and both interstitial and endocardial fibrosis. Genetic testing detected a pathogenic c.1841C>T (p.Thr614Met) variant in the acid alpha-glucosidase (GAA) gene linked to autosomal recessive Pompe disease. She is being followed as an outpatient and reports marked improvement in exertional dyspnea and exercise tolerance. She has been referred to a specialist center for enzyme replacement.
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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.