From sudden stroke to heart transplant: unmasking restrictive cardiomyopathy in an adolescent: a case report
Bibliographic record
Abstract
Abstract Background Paediatric acute ischaemic stroke (AIS) is a challenging diagnostic entity. A comprehensive cardiac evaluation is essential in all paediatric AIS cases to rule out cardioembolic sources. We present the case of a teenage female with AIS who was found to have restrictive cardiomyopathy (RCM). Case summary A 15-year-old female presented to the emergency department with left-sided paresis, hemi-neglect, and facial paralysis. Neuroimaging demonstrated a right middle cerebral artery infarct and mechanical thrombectomy was performed. Chest radiography revealed cardiomegaly and pulmonary oedema, and electrocardiogram (ECG) showed biatrial enlargement with repolarization abnormalities. Echocardiography revealed RCM, which was subsequently confirmed by cardiac magnetic resonance imaging, providing support for a cardioembolic source, and she received a heart transplant. Genetic testing ultimately identified a heterozygous pathogenic variant in MYH7. Discussion Paediatric AIS is uncommon and frequently idiopathic, with cardioembolism accounting for ∼15% of adolescent cases. Restrictive cardiomyopathy, although rare, should be considered in the differential, as thromboembolic complications occur in up to one-third of patients, with nearly half of these involving the cerebral circulation. Importantly, stroke may be the first manifestation of the disease. Early cardiac screening, including ECG, chest radiography, N-terminal pro-B-type natriuretic peptide (NT-proBNP), and echocardiography, is crucial in the early diagnostic work-up of paediatric AIS. Prompt recognition of diastolic dysfunction and atrial enlargement may accelerate diagnosis and inform timely referral for heart transplantation. In short, paediatric AIS, though rare, requires thorough diagnostic evaluation to identify potential cardioembolic sources.
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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 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.004 | 0.003 |
| Insufficient payload (model declined to judge) | 0.002 | 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".