NPPA-Associated Atrial Dilated Cardiomyopathy
Bibliographic record
Abstract
BACKGROUND: Atrial standstill is a rare arrhythmogenic disorder characterized by complete atrial electrical and mechanical inactivity. We report the 15th documented case of atrial dilated cardiomyopathy associated with the homozygous c.449G>A (p.Arg150Gln) NPPA mutation. CASE SUMMARY: A 31-year-old woman presented with persistent atrial fibrillation, biatrial enlargement, and junctional rhythm. Electrophysiological studies confirmed atrial inexcitability. Despite preserved ventricular function, she required permanent His-bundle pacing. Genetic testing later revealed a homozygous NPPA mutation, whereas heterozygous family members remained asymptomatic. DISCUSSION: This case highlights the diagnostic value of genetic testing in young patients with atrial fibrillation and no structural heart disease. Early recognition of NPPA-related atrial dilated cardiomyopathy may guide arrhythmia management and anticoagulation strategies, reducing thromboembolic risk. TAKE-HOME MESSAGE: Broader implementation of genetic screening in selected individuals with isolated atrial dysfunction may support earlier diagnosis, personalized treatment, and better outcomes in this ultrarare condition.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| 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".