Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot
Bibliographic record
Abstract
Genetic changes affect embryogenesis, cardiac and extracardiac phenotype, development, later onset conditions, and both short-and long-term outcomes and comorbidities in the increasing population of individuals with tetralogy of Fallot (TOF).In this review, we focus on current knowledge about clinically relevant genetics for patients with TOF across the lifespan.The latest findings for TOF genetics that are pertinent to day-to-day practice and lifelong management are highlighted: morbidity/mortality, cardiac/extracardiac features, including neurodevelopmental expression, and recent changes to prenatal screening and diagnostics.Genome-wide microarray is the first-line clinical genetic test for TOF across the lifespan, detecting relevant structural changes including the most common for TOF, the 22q11.2microdeletion.Accumulating evidence illustrates opportunities for advances in understanding and care that may arise from genetic diagnosis at any age.We also glimpse into the near future when the multigenic nature of TOF will be more fully revealed, further enhancing possibilities for preventive care.Precision medicine is nigh. R ESUM EDans la population croissante des personnes atteintes de la t etralogie de Fallot (TF), des modifications g en etiques influencent l'embryogenèse, le d eveloppement, le ph enotype cardiaque et extracardiaque, les complications tardives ainsi que les issues de sant e et les etats comorbides, à court et à long terme.Notre article de synthèse pr esente l' etat des connaissances sur les renseignements g en etiques cliniquement utiles pour les patients atteints de la TF tout au long de leur vie.Nous soulignons les d ecouvertes r ecentes sur les aspects g en etiques de la TF qui sont pertinentes pour la pratique clinique quotidienne et la prise en charge lors des diff erentes etapes de la vie : la morbidit e et la mortalit e, les caract eristiques cardiaques et extracardiaques (y compris l'expression neurod eveloppementale) et les changements r ecents touchant le d epistage et les diagnostics pr enataux.La technologie de puce à ADN pour le g enome entier constitue le test g en etique clinique de première intention pour les personnes de tout âge atteintes de la TF, et elle permet la d etection de modifications structurelles pertinentes dont celle le plus fr equemment associ ee à la TF, la microd el etion 22q11.2.L'utilit e d'un diagnostic g en etique pour am eliorer la compr ehension de la situation des patients de tous les âges et les soins qui leur sont offerts est de plus en plus mise en evidence.Nous entrevoyons egalement un avenir pas si lointain dans lequel la nature multig enique de la TF sera entièrement connue, ce qui ouvrira la voie à des soins pr eventifs bonifi es.La venue de la m edecine de pr ecision est imminente.As the most common of the cyanotic cardiac lesions, comprising 7%-10% of the congenital heart disease (CHD) population, tetralogy of Fallot (TOF) is an important condition that arises early in development, involving a complex spectrum of anatomically defined anomalies (nonrestrictive ventricular septal defect, over-riding aorta of less than 50%, infundibular, valvular, and supravalvular stenosis of the right ventricular outflow tract, and right ventricular hypertrophy), CJC Pediatric and Congenital Heart Disease -(2023) 1e14
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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".