MétaCan
Menu
Back to cohort
Record W4412609805 · doi:10.1016/j.ymgme.2025.109200

Progression of left ventricular mass is associated with clinical events in key subgroups of Fabry disease: Analyses from the Fabry Registry

2025· article· en· W4412609805 on OpenAlexaff
James Moon, Gavin Y. Oudit, Julie L. Batista, Kathryn M. Wilson, Pronabesh DasMahapatra, Derralynn Hughes, Aleš Linhart

Bibliographic record

VenueMolecular Genetics and Metabolism · 2025
Typearticle
Languageen
FieldMedicine
TopicLysosomal Storage Disorders Research
Canadian institutionsUniversity of Alberta
FundersSanofi
KeywordsFabry diseaseMedicineInternal medicineCardiologyDisease

Abstract

fetched live from OpenAlex

Introduction Cardiovascular complications are the primary cause of morbidity and mortality in Fabry disease. Despite disease-specific and adjuvant treatments, gaps in care exist. Cardiac imaging facilitates the understanding of disease progression, however data on the clinical relevance of imaging endpoints in Fabry disease are scant. Therefore, we evaluated the association between left ventricular mass index (LVMi) measured via echocardiography and risk of subsequent clinical events. Methods Adult patients from the Fabry Registry treated with enzyme replacement therapy, with echocardiography measurements and no prior kidney events were analyzed. Composite clinical events included cardiac, cerebrovascular, and kidney events, or death. Cox proportional hazard models were used to estimate hazard ratios (HR) and 95 % confidence intervals (CI) for the association between (1) baseline LVMi and (2) LVMi progression (i.e., slopes) with the risk of subsequent clinical events. Results Baseline LVMi analysis included 809 patients (53.1 % females) with median age at diagnosis [25th, 75th percentile]: 39.5 years [26.7, 52.2]) who had 248 clinical events, including 170 cardiac events, over 4752 and 5128 person-years, respectively. Higher baseline LVMi was associated with greater risk of composite clinical and cardiac events (adjusted HR per 10 % higher baseline LVMi: 1.09 [95 % CI: 1.04–1.13; p < 0.001] and 1.11 [95 % CI: 1.06–1.17; p < 0.0001], respectively). LVMi slope analysis included 377 patients with median 3-year LVMi slope [25th, 75th percentile] of −0.5 g/m 2 /year [−7.8, 7.2]; and evaluated 86 composite clinical events and 57 cardiac events, over 1899 and 2028 person-years, respectively. Increasing LVMi slope was associated with higher incidence of clinical events in key subgroups including in those with the classic Fabry phenotype, those with left ventricular hypertrophy (LVH) at baseline, those with pre-baseline clinical events and in patients with history of hypertension; adjusted HR per 10 g/m 2 /year increase in LVMi slope ranged from 1.16 to 1.64 ( p < 0.05). Conclusions Our study quantifies the biologically plausible association between LVMi and its progression with composite clinical events, including in key subgroups of Fabry patients.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.005
metaresearch head score (Gemma)0.006
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.005
Threshold uncertainty score0.024

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0050.006
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.002
Science and technology studies0.0000.000
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0010.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.027
GPT teacher head0.367
Teacher spread0.340 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations1
Published2025
Admission routes1
Has abstractyes

Explore more

Same venueMolecular Genetics and MetabolismSame topicLysosomal Storage Disorders ResearchFrench-language works237,207