T <sub>1</sub> Mapping With Cardiovascular MRI Is Highly Sensitive for Fabry Disease Independent of Hypertrophy and Sex
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Bibliographic record
Abstract
BACKGROUND: Fabry disease (FD) is an X-linked disorder of lysosomal metabolism affecting multiple organs with cardiac disease being the leading cause of death. Current imaging evaluations of the heart are suboptimal. The goals of the current study are to evaluate the potential of quantitative T₁ mapping with cardiovascular MRI as a disease-specific imaging biomarker. METHODS AND RESULTS: A total of 31 patients with FD, 23 healthy controls, and 21 subjects with concentric remodeling or hypertrophy underwent cardiovascular MRI to measure left ventricular (LV) morphology, function, delayed enhancement, as well as myocardial T₁ values, and derived parameters (extracellular volume). All subjects had LV ejection fraction >50% and similar volumes. FD and concentric remodeling or hypertrophy had similarly increased mass, wall thickness, and mass/volume as compared with controls. A total of 16 of 31 FD subjects and 10 of 21 concentric remodeling or hypertrophy subjects had LV hypertrophy. Noncontrast myocardial T₁ values were substantially lower in FD as compared with controls and concentric remodeling or hypertrophy (1070 ± 50, 1177 ± 27, and 1207 ± 33 ms, respectively; P<0.001), but extracellular volume was similar in all groups (21.7 ± 2.4%, 22.2 ± 3.1%, and 21.8 ± 3.9%, respectively). Single-voxel NMR spectroscopy in 4 FD and 4 healthy control subjects showed a significant negative linear relationship between lipid content and noncontrast T₁ values (r=-0.9; P=0.002). Female subjects had lower LV mass and wall thickness, longer myocardial T₁ values and larger extracellular volume suggesting a key sex difference in cardiac remodeling. CONCLUSIONS: Reduced noncontrast myocardial T₁ values are the most sensitive and specific cardiovascular MRI parameter in patients with FD irrespective of sex and LV morphology and function.
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Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it