Andersen–Tawil Syndrome: A Retrospective Analysis of Clinical and Electrocardiographic Characteristics
Bibliographic record
Abstract
Andersen-Tawil syndrome is an autosomal dominant, multisystem disorder characterized by periodic paralysis, dysmorphic features and cardiac arrhythmias.Mutations in the KCNJ2 gene, which encodes potassium channels, have been identified in individuals with Andersen-Tawil syndrome.These individuals can present with typical electrocardiographic findings that can prognosticate their tendency to develop lethal arrhythmias.However, literature on cardiac and clinical findings in this population is scarce.We analyzed the clinical characteristics, electrocardiographic patterns and the risk of potentially malignant cardiac arrhythmias in seven subjects with Andersen-Tawil syndrome.All patients reported episodes of palpitations.Forty-two percent had syncope or presyncope and 28% had a history of periodic paralysis.A family history of sudden death was present in 42.8%.Electrocardiogram analysis showed prominent U-waves in 57%.The mean QTc and QUc intervals were 432.7±23.23 ms and 599.1±83.82ms, respectively.Exercise stress testing induced ventricular arrhythmias in all patients in the initial stages.The 24-h Holter monitoring showed frequent ventricular premature beats (85%) and episodes of nonsustained polymorphic or bidirectional ventricular tachycardia (71%).Patients with Andersen-Tawil syndrome have a significant clinical burden of ventricular arrhythmias that can progress to sudden cardiac death.The 24-h Holter monitoring and exercise stress test were highly efficient methods to detect the presence of potentially lethal ventricular arrhythmias and should be used in the diagnostic work-up of patients with Andersen-Tawil syndrome.
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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) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.000 | 0.001 |
| 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".