Comparison of presentation and disease progression between gene positive and gene negative patients evaluated for arrhythmogenic right ventricular cardiomyopathy
Notice bibliographique
Résumé
Background 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 workup, dependent on their genetic results. Methods 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. Results 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. Conclusions 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. Funding N/A.
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Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,002 | 0,001 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,002 | 0,001 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».