Abstract 5693: Detection of a Founder Effect in LQT1 in Five Apparently Unrelated Families in a Regional Inherited Arrhythmia Clinic
Bibliographic record
Abstract
The Inherited Arrhythmia Clinic follows families with inherited arrhythmia syndromes from a population of 1.5 million people. Patients referred for evaluation of Long QT Syndrome (LQTS) underwent resting and standing ECGs, and 3 forms of exercise. Patients with findings consistent with LQTS underwent genetic testing, with assessment of all 1 st degreerelatives. A proband from each of 5 unrelated families was found to have an identical disease causing transmembrane mutation in KCNQ1, suggesting a founder effect (Exon 6, 797 T>C). Systematic screening of 1 st degree relative of affected individuals was performed. 31 patients (age 42±24yrs (range 4 – 89 years), 18 female) were identified from the 5 families, including the 5 probands. All affected individuals were offered beta-blockers. 18 affected family members and 13 unaffected 1 st degree relatives were identified. Several family members had malignant presentations including sudden death and unexplained drowning. One proband had torsades de pointes during an exercise test. Other family members were asymptomatic until their 8 th and 9 th decades when they developed cardiac ischemia and had further QT prolongation, torsades de pointes and cardiac arrest. Sudden death occurred in a deaf child; both of the child’s consanguineous parents were gene positive for the KCNQ1 mutation (Jervell and Lange-Nielsen Syndrome). There was no identifiable common relative after pedigree construction of the previous 4 –7 generations. Affected patients typically had borderline QT prolongation at rest with dramatic prolongation with exercise (Table ). Genetic testing in this LQTS population suggests a founder effect for the five families with the descendants clustering in our geographical region. The observations highlight the utility of genetic testing when used in conjunction with a specialized clinic setting.
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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 | 0.004 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.003 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.005 | 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".