Andersen‐Tawil Syndrome: Management Challenges During Pregnancy, Labor, and Delivery
Bibliographic record
Abstract
Andersen-Tawil syndrome (ATS) is characterized by ventricular arrhythmias, hypokalemic periodic paralysis and developmental anomalies. It is caused by mutations in the KCNJ2 gene that encodes for the alpha-subunit of Kir2.1, a K(+) channel responsible for cardiac repolarization. Providing effective therapy to reduce arrhythmia burden and risk of sudden death is challenging, especially in the context of pregnancy and childbirth. We report a case of a pregnant 27-year-old woman with an R218W mutation in the C-terminal interaction domain of KCNJ2 causing ATS. Regular cardiac and obstetric assessments were performed for the duration of the pregnancy, which carried to term and delivered successfully with potassium replacement and intravenous beta blockade. ATS is a rare and potentially lethal condition in which there is considerable genetic and phenotypic heterogeneity. Effective management strategies are directed at reducing symptoms, arrhythmia burden and sudden cardiac death. This case illustrates the challenges and approach to management of patients with ATS who are pregnant and undergo childbirth.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 teacher head, 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".