Muscular dystrophies and the heart: The emerging role of cardiovascular magnetic resonance imaging
Bibliographic record
Abstract
M uscular dystrophies (MD) constitute a heterogeneous group of inherited disorders characterized by progressive skeletal muscle atrophy and weakness.Diagnosis is based on the severity of muscular disease and type of inheritance, confirmed by genetic assessment.Cardiac disease is common in MD and is not necessarily related to the severity of skeletal myopathic disease; on the contrary, heart involvement may be the presenting or predominant manifestation of MD in some cases, without any other evidence of muscular disease.Cardiac death in these patients is usually due to ventricular dysfunction, heart block and/or malignant arrhythmias.Recently, increased survival rates due to better management of lung disease have emphasized the role of heart disease as an important contributor to the mortality of MD (1).Cardioprotective medical treatment may delay the development of heart disease; therefore, early diagnosis is essential for MD patients' survival (2-6).Clinical evaluation, electrocardiography (ECG) and echocardiography are the classic screening tools (7,8); cardiovascular magnetic resonance imaging (CMR) may be of considerable value for early detection of cardiac disease -which may remain silent for long periods -due to its capability to characterize tissue (9,10). SKeleTAl MuSCle diSeASeS CoMMonly ASSoCiATed WiTh CARdiAC involveMenT dystrophin-associated diseases (dystrophinopathies)Dystrophinopathies include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XLCM) and facioscapulohumeral muscular dystrophy (FSHD).DMD and BMD are X-linked disorders affecting the synthesis of dystrophin, a large sarcolemmal protein that is absent in DMD (11), and reduced in amount or abnormal in BMD (12).The incidence of DMD is one in 3500 male newborns with a prevalence of six in 100,000 males (13).DMD is characterized by weakness of the leg, pelvic and shoulder girdle muscles starting in early childhood.DMD and BMD account for >80% of all causes of MD.Dystrophin provides the connection between a large complex of glycoproteins in the muscle cell membrane (called the dystrophinglycoprotein complex) and intracellular actin filaments, transmitting forces generated by sarcomere contraction to the extracellular matrix (14,15).Absence, reduced levels or abnormal structure of dystrophin leads to membrane fragility, making muscle fibres prone to injury during contraction (16).As muscle disease progresses, muscle repair cannot adequately compensate for damage, leading to necrosis of skeletal and cardiac myocytes and progressive replacement by fibrofatty tissue (17).BMD is a milder variant of dystrophinopathy with a better prognosis.Incidence of BMD is one in 18,450 males and prevalence is 2.4 per 100,000 in the general population (11,18).The first symptoms appear between three and 21 years of age, with a mean age of onset of 11 years.The age at death is 21 to 89 years (mean age approximately 45 years) (19)(20)(21)(22).XLCM is a primary myocardial dystrophinopathy, presenting as congestive heart failure in teenage males, with almost no skeletal muscle disease.It is characterized by rapid progression, leading to review
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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 | 0.002 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.002 |
| Scholarly communication | 0.002 | 0.003 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.003 | 0.003 |
| Insufficient payload (model declined to judge) | 0.003 | 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".