3946Comparison of genetic signature of isolated left ventricular non-compaction cardiomyopathy and familial dilated cardiomyopathy as assessed by whole exome sequencing
Bibliographic record
Abstract
Introduction: Isolated left ventricular non-compaction cardiomyopathy (LVNC) is an unclassified form of cardiomyopathy which may overlap with genetic forms of dilated cardiomyopathy. We aimed to compare genetic architecture of LVNC and familial DCM (DCM) to elucidate whether LVNC represents a distinct disease entity. Methods: A representative cohort of 39 patients (pts) with LVNC and 83 probands with familial DCM [mean age 49±14 years; 85 males (70%), 37 females (30%)] from three tertiary care hospitals was assessed by whole exome sequencing (WES; SeqCap EZ MedExome, Roche, USA; Illumina, USA). Detected variants were confirmed by Sanger DNA sequencing and their segregation was assessed in available families. Diagnosis of LVNC was made by two specialists, based on echocardiographic criteria and/or cardiac magnetic resonance imaging. Familial DCM was defined as confirmed diagnosis of DCM in ≥2 closely related family members. Results: Three probands (8%) with LVNC had familial disease with either LVNC (2 cases) or hypertrophic cardiomyopathy (1 case) in a first degree relative. In LVNC patients, WES revealed one pathogenic mutation in 26 pts (67%), ≥2 pathogenic mutations in 4 pts (10%) and an inconclusive result in 9 pts (23%). The corresponding results of WES in familial DCM were as follows: one pathogenic mutation in 50 pts (60%), ≥2 pathogenic mutations in 11 pts (13%) and an inconclusive result in 22 pts (27%). Table illustrates differences between both diagnoses. Mutations affecting sarcomeric genes (MYH7, MYH6, ACTC1, TNNT2, TPM1) and group of other genes (PRDM16, RBM20, LAMP2, RAF1, TMEM43, TNNI3K, TBX20) were more common in LVNC than in familial DCM. On the other hand, truncating mutations of titin were the most common etiology of familial DCM followed by mutations of sarcomeric (MYH7, MYBPC3, TNNT2, TNNI3, MYOC1) and desmosomal (DSP, PKP2) genes.
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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) | 0.000 | 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 | 0.000 |
| Insufficient payload (model declined to judge) | 0.004 | 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".