Functional Pulmonary Atresia With Overlapping Dilated, Hypertrophic, and Excessive Trabeculation Cardiomyopathy in a Neonate With a TPM1 Mutation
Bibliographic record
Abstract
Cardiomyopathies in neonates represent a heterogeneous group of disorders with diverse genetic underpinnings and phenotypic manifestations.Among sarcomeric protein mutations, TPM1, encoding a-tropomyosin, is well recognized as a causal gene for hypertrophic cardiomyopathy, dilated cardiomyopathy, excessive trabeculation cardiomyopathy (LVET), and, less frequently, restrictive cardiomyopathy.Here, we report a neonate with a TPM1 missense mutation who presented prenatally with functional pulmonary atresia and a unique combination of cardiomyopathy phenotypes.Despite the concerning presentation, the infant evolved favorably with supportive management, highlighting the variability of clinical trajectories in this condition. CaseA 26-year-old gravida 3, para 0 woman was referred at 24 + 6 weeks of gestation for suspected congenital heart disease on routine ultrasound.Fetal echocardiography was remarkable for a morphologically normal tricuspid and mildly thickened pulmonary valve.Antegrade pulmonary flow was absent, and the right ventricle was dilated and hypertrophied with decreased systolic function.A diagnosis of pulmonary valve atresia with intact ventricular septum was made initially.No extracardiac anomalies were identified.Amniocentesis for genetic investigations was offered but declined.The family history was noncontributory.The fetal echocardiographic
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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 | 0.001 | 0.006 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.003 | 0.002 |
| Insufficient payload (model declined to judge) | 0.002 | 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".