Cardiac involvement in female elite athletes with carrier status of Duchenne muscular dystrophy
Bibliographic record
Abstract
Duchenne muscular dystrophy is a muscle-wasting, progressive, X-linked inherited disease in young male individuals, who-aside from peripheral muscular impairment-may also suffer from severe cardiac complications. In women who are muscular dystrophy carriers (MDCs), muscular symptoms and cardiac complications are less severe or even absent. While male individuals with muscular dystrophy are not usually able to perform strenuous exercise, women who are MDCs can exercise at mild, or even high, intensity. However, the impact of participating in elite sports, particularly endurance sports with high cardiopulmonary exercise strain, on female athletes who are MDCs is uncertain. Herein, we describe two rare cases of female elite athletes who are MDCs who participated in endurance sports. We describe their clinical presentation, kinetics of cardiac biomarkers and peripheral muscle enzymes during acute exercise, and cardiac manifestations in the context of sports eligibility, including an interdisciplinary shared decision-making approach to whether to continue participating in sports. This approach focuses on pathophysiology and genetics in dystrophinopathies, with a particular focus on genetic carrier status. While the primary concern is risk stratification for sudden cardiac death and its prevention, the potential risk of early onset of myocardial dysfunction or even heart failure also needs to be considered in MDCs. To optimize exercise recommendations, these complex and rare cases of athletes require an interdisciplinary approach, including experts in sports cardiology, sports medicine, radiology, and genetics, and should be included in a long-term international sports cardiology registry.
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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 | 0.000 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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".