Bicuspid Aortic Valve in Heritable Thoracic Aortic Disease: Insights from the Montalcino Aortic Consortium
Bibliographic record
Abstract
Abstract Bicuspid aortic valve (BAV) is the most common congenital heart malformation and predisposes to thoracic aortic aneurysms. The Montalcino Aortic Consortium (MAC) registry collects genetic and phenotypic data on individuals with heritable thoracic aortic disease genes (HTAD PVs) that primarily regulate smooth muscle cell contraction or TGF-β signaling (TGF-β PVs, termed Loeys-Dietz Syndrome (LDS)). We evaluated associations between BAV, HTAD PVs and aortic outcomes in the MAC cohort. BAV was present in 48 (6%) of 816 MAC participants (age 38 [IQR 20-52] years, 51% female) and was not significantly increased in males or in the entire TGF-β PV group (417 with TGF-β PVs, p=0.14) but was enriched in participants with TGFBR1 or TGFBR2 PVs (16/168, 10% vs. 32/648, 5%, PR 1.93 [1.08, 3.43], p<0.05). BAV was associated with aortic regurgitation (AR, 17/46, 37% vs. 84/752, 11%, PR 3.3 [2.2-5.1], P< 0.001), younger age at first aortic event (24 vs. 40 years, p<0.001), primarily reflecting increased proximal aortic repair (27/48, 56% vs. 227/768, 30%, PR 1.90 [1.45, 2.50], P< 0.0001), but not aortic dissection (6/48, 13% vs. 134/768, 18%, P>0.5). Sinus of Valsalva dilation (Z>3, 25/48, 52% vs. 128/768, 17%, P< 0.0001) and ascending aorta dilation (Z>3, 12/48, 25% vs. 26/768, 3%, P< 0.0001) were more common in participants with BAV. Participants with both TGF-β PV and BAV more frequently had aortic valve surgery (17/30, 57% vs. 110/387, 28%, PR 1.99 [1.40-2.83], p<0.01) and sinus of Valsalva dilation (20/29, 69% vs. 91/258, 35% PR 1.96 [1.40-2.63], p<0.001), but not ascending dilation, than participants with TGF-β PV who did not have BAV. BAV is enriched in individuals with HTAD PV, most prominently in the subgroup with LDS TGFBR1 and TGFBR2 , and is associated with accelerated aortic valve and aortic diseasebut does not confer an increased risk for aortic dissection. These observations highlight the potential benefits of genetic testing for BAV patients who have a family history of HTAD, a sinus of Valsalva aneurysm, or clinical features suggestive of LDS.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.003 | 0.007 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.002 | 0.000 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 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 source (direct Gemma or distilled Codex), 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".