Bibliographic record
Abstract
Sudden death is a devastating event for the patient and their family, particularly in children and young adults, as well as the working population.1–4 In spite of all progress in prevention and risk stratification,5 this remains an important health issue. The most important causes are coronary artery disease,6 cardiomyopathies,7 and channolopathies,8,9 as well as lifestyle, in particular ‘recreational’ drug use.10 Together with its US partner societies, the European Society of Cardiology has provided guidelines on ventricular arrhythmias and sudden death,11 as well as on the management of syncope,12 which should help practising cardiologists to deal with these problems. Nevertheless, there are rare conditions such as arrhythmogenic right ventricular dysplasia or cardiomyopathy (ARVD/C) where we need more evidence for proper management. In this issue, Richard Hauer from the Heart Lung Center Utrecht in The Netherlands reports in a first paper entitled ‘Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers’ the effects of the genotype on the clinical course and arrhythmic outcome among 577 patients from 241 families with ARVD/C-associated mutation carriers.13 The authors found that patients with sudden cardiac death or ventricular fibrillation at presentation were younger than those presenting with sustained monomorphic ventricular tachycardia. Over 6 years of follow-up, amongst 541 subjects presenting alive, 2% died, 30% had sustained ventricular tachycardia or fibrillation, 14% had an ejection fraction of <55%, 5% experienced heart failure, and 2% required cardiac transplantation. Of note, 4% of the patients with more than one mutation had earlier occurrence of sustained ventricular tachycardia or fibrillation, lower arrhythmia-free survival, more commonly a reduced ejection fraction or heart failure, and more often underwent cardiac transplantation. DSP mutation carriers experienced a more then four-fold higher occurrence of left ventricular dysfunction and heart failure compared with PKP2 carriers. Missense mutation carriers had similar death or transplant-free survival and ventricular tachycardia or fibrillation compared with those with truncating or splice site mutations. Men were more likely to be symptomatic and had earlier and more severe arrhythmias. The authors conclude that a presentation with sudden cardiac death or ventricular fibrillation occurs at a significantly younger age as compared with sustained monomorphic ventricular tachycardia. Importantly, the genotype of the ARVD/C mutation carriers impacts on the clinical course and disease expression, and male sex negatively modifies the phenotypic expression of the disease.
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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 | 0.001 | 0.008 |
| 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 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 0.001 |
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".