Comparison of presentation and disease progression between gene positive and gene negative patients evaluated for arrhythmogenic right ventricular cardiomyopathy
Bibliographic record
Abstract
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive disease. However, the likelihood and rate of progression are unknown, especially in children and adolescents. Therefore, the optimal timing of serial investigations with cardiac magnetic resonance (CMR) and other tests in this age group is uncertain. Further, it is unknown whether gene positive patients differ from gene negative patients in their presentation and disease progression. The aim of this study is to determine the presentation and disease progression of patients referred for an ARVC work-up, dependent on their genetic results. For this retrospective study serial data in patients with a known pathogenic mutation for ARVC (gene positive group) were compared to those in gene-negative patients. The diagnosis was made according to the revised Task Force criteria (TFC). CMR, ECG, and signal average ECG results as well as clinical findings were recorded during each (serial) work-up. Twenty-one gene positive and 102 gene negative were identified. The patients were followed for a period of 4.3±3.1 years (0-13.9). The age at initial presentation was similar in both groups (10.5 ± 4.3 and 11.7 ± 5.9 years, respectively). A higher percentage of gene positive patients (52.4% vs. 17.6% in the gene negative group, p=0.004) were referred for family history. Fewer patients in the gene positive group (33.0% vs. 72.8%, p=0.001) were symptomatic at presentation. In both groups, the number of patients who progressed from asymptomatic to symptomatic was very low (4.7% and 1% in the gene negative and positive groups, respectively, p=0.57). The rate of progression of ventricular volumes and ejection fractions of both ventricles and of ECG findings did not differ significantly between the two groups. Gene negative and positive patients are referred at similar ages. Our results indicate that most gene negative patients are referred for symptoms while most gene positive patients undergo a work-up because of a positive family history. Patients who are asymptomatic at presentation are unlikely to develop symptoms during childhood. While important for the diagnosis according to the TFC, an identification of an ARVC gene does not appear to confer a higher risk of disease progression in childhood.
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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 | 0.003 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 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".