Abstract 4147910: 22q11 Deletion Syndrome: A Potenitial Risk Factor For Left Pulmonary Artery Hypoplasia and Need For Intervention in Patients With Congeital Heart Disease
Bibliographic record
Abstract
Background: Individuals with 22q11 deletion syndrome have a mutation in the TBX1 gene which is associated with the formation of cardiac outflow tracts. Animal studies have shown that mice with TBX1 gene mutations have smaller left pulmonary arteries compared to wild type mice, defined by a reduced left pulmonary artery (LPA) to right pulmonary artery (RPA) ratio. A single study has shown this translates to humans with 22q11 and structurally normal hearts. We sought to determine if this is also true for patients with congenital heart disease and whether this finding has clinically significant links with reference to the need for increased intervention upon the LPA. Method: We performed a retrospective analysis of patients at our centre who underwent surgical repair of Tetralogy of Fallot, Truncus Arteriosus or Interrupted Aortic Arch between 2007 and 2022, with follow up to 2023. 134 patients were identified and were divided into two groups, those with 22q11 deletion syndrome (19 patients) and the control group (115 patients). The LPA to RPA ratio on initial and most recent echocardiogram, intervention on the LPA at initial surgery and subsequent reintervention on the LPA were compared between the two groups. Results: The 22q11 deletion and control group had a similar mean age at time of study 6.9±3.4 versus 5.9±3.8 years. Tetralogy of Fallot was overrepresented in the control group compared to the 22q11 deletion group (87.8% versus 42.1%). Patients with 22q11 deletion had a reduced LPA to RPA ratio compared to the control group on both the initial (0.84±0.17 versus 1.03±0.18; p<0.001) and most recent (0.76±0.17 versus 1.03±0.27, p=0.002) echocardiogram. Patients with 22q11 were more likely to have intervention on the LPA in their initial surgery compared to the control group (36% versus 8.7%, p = 0.003). There was no statistical differences between rates of LPA reintervention between the 22q11 deletion group and the control group (26% versus 10.7%; p=0.070). Conclusion: Patients with 22q11 deletion syndrome are more likely to have reduced LPA to RPA ratio and need intervention on the LPA at the initial surgery, despite Tetralogy of Fallot (the only of the three lesions known to be associated with LPA stenosis) being over represented in the control group. The most recent echocardiogram showed a reduced LPA to RPA ratio in the 22q11 group, so we suspect that whilst we demonstrated no difference in rates of reintervention, this could change with longer follow up.
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 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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| 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".