Atrioventricular septal defect: from fetus to adult
Bibliographic record
Abstract
The term “atrioventricular septal defect” (AVSD) covers a spectrum of congenital heart malformations characterised by a common atrioventricular junction coexisting with deficient atrioventricular septation. In ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, while in complete AVSD the valve itself is also shared. The estimated incidence of the condition in the era of two-dimensional echocardiography varies from 0.24/1000w1 live births to 0.31/1000w2 live births. There is a strong association with Down’s syndrome, with half of patients with AVSD in the population of Bohemia also complicated by Down’s syndrome.w3 Conversely in a Toronto study about one third of patients with Down’s syndrome had a complete AVSD and 5% had an ostium primum ASD.w4 In a prospective screening study within the relatively static Northern Irish population the incidence of AVSD in Down’s syndrome was 17% and the overall incidence of congenital heart disease in Down’s syndrome was 42%.1 Three different genetic patterns are described in AVSD: the association with Down’s syndrome, as an autosomal dominant trait, and isolated. Molecular studies of patients with congenital heart disease and partial duplications of chromosome 21 have proposed DSCAM (Down’s syndrome cell adhesion molecule) as a candidate gene causing congenital heart disease in Down’s syndrome.2 Cases with autosomal dominant inheritance, however, are not linked to chromosome 21.w5 Over the past four decades the management of the complete form of the condition has evolved from palliative pulmonary artery banding in infancy with later repair to primary repair in early infancy to prevent the development of pulmonary vascular obstructive disease. Decreasing operative mortality has significantly altered the prognosis of these patients with and without Down’s syndrome. The improved prognosis for patients with Down’s syndrome and AVSD has implications for the management of patients …
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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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 0.002 |
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".