Living with arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L disease-causing variant in TMEM43: symptoms of anxiety, depression, and posttraumatic stress in non-carrier first-degree relatives of patients with an ICD
Bibliographic record
Abstract
This pilot study investigated the mental health impact of implantable cardioverter defibrillator (ICD) therapy on families in Newfoundland and Labrador that are affected by arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in transmembrane protein 43 (TMEM43). The sample for this study was individuals born at an a priori 50% risk of having the TMEM43 mutation but tested negative and had a first-degree relative with an ICD. A total of 25 participants completed three psychometric scales that assessed symptoms of depression, anxiety, and post-traumatic stress disorder (PTSD). Our sample scored significantly lower on depression, anxiety, and PTSD than ICD patients but significantly higher on anxiety than the general population. A significant relationship was observed between symptoms of anxiety and the duration of time since their relative had an ICD implanted. As the time since implant increased, anxiety significantly decreased. These preliminary findings suggest that testing negative for the TMEM43 mutation raises anxiety above general population norms; however, within the family context, they have fewer potential mental health sequalea. Studies of this kind can inform healthcare professionals and health system decision makers regarding the provision of mental health services to high risk individuals and their families.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.001 | 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) | 0.001 | 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".