ArticleCJC open2025
Utilization of Transthoracic Echocardiography and Biochemical Markers in Detecting Cardiomyopathy in Fabry Disease.
Article in CJC open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 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
2 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by α-galactosidase A enzyme deficiency, resulting in multiorgan accumulation of glycosphingolipid. Cardiac accumulation leads to left ventricular hypertrophy, diastolic dysfunction, fibrosis, and sudden cardiac death. Advances in transthoracic echocardiograms (TTEs) have enabled the detection of subclinical atrial and ventricular cardiomyopathy. Until now, studies assessing changes on TTE in FD have been small and cross-sectional. To understand longitudinal changes, our aim was to quantify trends in TTE parameters, linked to relevant physiological and biochemical parameters. Methods: A single-centre retrospective study was conducted of 75 FD patients who received longitudinal follow-up care (53% female, 57% on enzyme replacement therapy) between 2011 and 2023. Results: Longitudinal follow-up care demonstrated increasingly impaired left ventricular global longitudinal strain (GLS), tissue Doppler imaging, and right ventricular systolic function. Atrial changes included increasingly impaired left atrial GLS, greater volumes, and reduced left atrial ejection fraction and fractional area change. A sex-specific increase occurred in indexed left ventricular mass in male patients. Biochemical changes included increases in high-sensitivity Troponin-T and N-terminal-pro-B-type natriuretic peptide levels. A sex-specific increase in the urine protein level and the albumin-creatinine ratio in male patients. Conclusions: TTE and biochemical trends highlight the gradual and insidious nature of FD progression, and stress the importance of considering multiparametric endpoints, including GLS, atrial function, and biomarkers, when assessing outcome in FD.
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.