Abstract 10925: The Impact of a Positive Gene Test on Presentation and Disease Progression of Arrhythomogenic Right Ventricular Cardiomyopathy in Childhood
Bibliographic record
Abstract
Background: The impact of a pathogenic mutation on the presentation and disease progression in arrhythmogenic right ventricular cardiomyopathy (ARVC) during childhood is unknown. The aim of this study was to compare gene-positive (GP) and gene-negative (GN) patients who were evaluated for ARVC. Methods: For this retrospective study, serial clinical data for patients with a known pathogenic mutation for ARVC (GP) were compared to those for GN patients. Magnetic resonance, echocardiography, ECG, signal average ECG (SAECG), Holter, and clinical findings were recorded during each serial evaluation. Patients were classified into possible, borderline or definite ARVC according to the revised Task Force Criteria (rTFC). Patients with ‘no’ ARVC at the last visit were excluded from the follow-up analysis. Results: We included 23 GP and 94 GN patients. GN and GP patients were similar in age at presentation. More patients in the GN group (75% vs. 30%, p=0.001) were symptomatic at presentation. The groups did not differ in their initial rTFC category or in their rate of progression to more severe diagnostic categories . Z-scores for RV end-diastolic volume (EDV) tended to progress faster in the GP group (p=0.06), as did the RV outflow tract diameter by echocardiography (p=0.04). Z-scores for RV ejection fraction deteriorated faster in the GP group (p=0.03) and Z-scores for LV EDV increased more rapidly (p=0.04). Patients who were symptomatic on presentation did not progress more quickly in terms of rTFC grading as compared to asymptomatic patients. During a median follow-up of 3.6 years (0-13.9), 2 patients developed ventricular tachycardia, 3 out of 20 with an implanted defibrillator experienced appropriate shocks, and 2 underwent heart transplantation. There were no deaths. GP did not predict adverse events. Conclusion: Gene negative and gene positive children who undergo a work-up for ARVC are referred at similar ages to a tertiary care centre. GP patients experience a faster growth of LV and RV size and a more rapid deterioration of RV function. However, being GP is not associated with a faster progression to higher rTFC categories , development of symptoms, or adverse outcomes in the pediatric age group.
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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) | 0.000 | 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".