Desmoplakin Cardiomyopathy Presenting as Recurrent Myocarditis Treated With Immunosuppression
Bibliographic record
Abstract
BACKGROUND: Desmoplakin (DSP) cardiomyopathy is a genetic cardiomyopathy which causes myocarditis, heart failure, and sudden death. CASE SUMMARY: A 42-year-old female presented with palmoplantar keratoderma, recurrent magnetic resonance imaging-confirmed myocarditis, and intense inflammation on cardiac positron emission tomography. Genetic testing confirmed DSP cardiomyopathy with a novel heterozygous DSP c.123C>G (p.Tyr41∗) truncating variant. Immunosuppression with prednisone and mycophenolate mofetil produced marked improvement on repeat positron emission tomography imaging. Predictive testing identified the same mutation in her 44-year-old sister. Cardiac magnetic resonance imaging revealed occult cardiomyopathy with severe myocardial fibrosis of similar phenotype. Both patients received heart failure therapies and were offered primary prevention implantable cardioverter defibrillator. DISCUSSION: A novel DSP truncating variant associated with inflammatory cardiomyopathy was identified. We propose a treatment algorithm to manage DSP cardiomyopathy incorporating predictive testing of relatives, immunosuppression of myocardial inflammation, risk stratification of sudden death, and initiation of heart failure therapies. TAKE-HOME MESSAGE: We present a novel DSP variant and algorithm to manage DSP cardiomyopathy.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 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) | 0.000 | 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 teacher head, 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".