Left Ventricular Non-Compaction, Atrial Fibrillation and <i>ANK2</i> Mutation in a Young Athlete
Bibliographic record
Abstract
Left ventricular non-compaction (LVNC) is a rare primary cardiomyopathy with genetic etiology, resulting from an abnormality of myocardial development during embryogenesis. It carries an elevated risk of left ventricular dysfunction, thromboembolic events and malignant arrhythmias. We report the case of LVNC associated with paroxysmal atrial fibrillation and ankyrin 2 (ANK2) mutation at the genetic test. An 18-year-old competitive athlete visited our medical center to undergo the diagnostic investigations protocol preparatory to the release of the suitability for competitive practice. The echocardiographic examination shows LVNC without ventricular remodeling (left ventricular ejection fraction (LVEF) 53%, global longitudinal strain (GLS) -18.3%). The echocardiographic diagnosis was confirmed by cardiac magnetic resonance imaging (cMRI), which revealed dense hypertrabeculation in the left ventricular apex and lateral wall. The cardiogenetic investigation showed a c.9145C>T variant (p.Arg3049Trp) identified in the ANK2 gene. This mutation is associated in the literature with rare cases of LVNC. The patient underwent an extended Holter monitoring which excluded ventricular arrhythmic events but showed two brief episodes of paroxysmal atrial fibrillation. Despite the absence of significant ventricular remodeling, considering the presence of paroxysmal atrial fibrillation and the presence of a mutation in the ANK2 gene, which has several variants related to high-risk phenotypes, it has been decided to suspend the competitive practice, and is defined an adequate clinical-diagnostic follow-up.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.018 | 0.021 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| 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".