Assessment of arterial damage in vascular Ehlers-Danlos syndrome: a retrospective multicentric cohort
Bibliographic record
Abstract
Abstract Background Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder due to pathogenic variants in the COL3A1 gene, leading to medium-size artery (MSA) dissection, aneurysm, and rupture with a poor prognosis. Conversely, aortic lesions are rarer and less investigated. Purpose To describe the association between the distribution of MSA and aortic lesions and the type of COL3A1 variants in a multicentric cohort of vEDS patients. Methods Analysis of the 330 vEDS adult patients from the French RaDiCO SEDVASC registry. At the time of the study, 87% were alive, 60.3% were index cases and 60.0% females. Median age at molecular diagnosis was 36 years (IQR 24.3–46.8). COL3A1 variants were identified using NGS and/or Sanger sequencing and classified according to their functional consequences: 80.6% dominant-negative (DN) and 19.4% leading to haplo-insufficiency (HI). Computed tomography angiography (CTA) was systematically performed during the initial work-up of patients. Carotid mechanics was also assessed by echotracking in a subgroup of 133 patients. Results Arterial lesion history was reported in 82.4% of the patients (N=272), with 227/272 patients (83.5%) having MSA lesions alone, 9 (3.3%) aortic lesions alone and 36 (13.2%) both. DN variant was associated with higher prevalence of arterial lesions than HI variant (P 0.044), especially on supra-aortic trunks and renal arteries (P 0.018 and P 0.0003 respectively). Importantly, the higher prevalence of aortic lesions observed in HI patients with arterial lesions versus DN patients (P 0.027) was not significantly different when adjusted for age (P 0.559). Carotid Young's modulus was lower in DN than HI patients (P 0.014), in association with the higher incidence of MSA lesions in this genotype group. Conclusion The prevalence of aortic lesions is not influenced by the COL3A1 genotype when adjusted for age. vEDS patients with DN variants have a higher frequency of MSA lesions especially in supra-aortic trunks which is associated with a lower carotid stiffness, suggesting a need for an optimal care for this subgroup of patients. Funding Acknowledgement Type of funding sources: Public grant(s) – National budget only. Main funding source(s): French National Research Agency under the specific programme “Investments for the Future”, cohort grant-agreement ANR-l0-COHO-03-01
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How this classification was reachedexpand
Full frame distilled prediction
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 | 0.002 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| 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 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 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 itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
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".