Abstract 16772: Gender Differences in the Presentation and Prognosis of Patients With Danon Disease
Bibliographic record
Abstract
Background: Danon Disease (DD) is a rare X-linked disorder with high morbidity and mortality. Clinical features include skeletal myopathy, hypertrophic cardiomyopathy (HCM), and neurologic symptoms. The first cases were described in 1981; however, gender differences are still poorly understood. Methods: From 773 manuscripts published from 2000-2017 in MEDLINE and EMBASE, we identified 180 cases. We included in the principal analysis 146 patients diagnosed with a genetic test (if index case) or muscle biopsy (if a relative of the index case). Results: Symptoms first occurred in males significantly earlier than females (median age 9 years vs. 23 p<0.001). Cardiomyopathy occurred in 91% of patients, the majority of whom had HCM. Thirty-seven (25.3%) patients received automated cardiac defibrillators, as primary prevention in 64.9% of cases. Males with hypertrophy were twice as likely to develop advanced heart failure at a median age of 21 years. Conversely, dilated cardiomyopathy (DCM) was 4 times more prevalent in females (n=12, 75%) compared to males (n=3, 19%). Intellectual disability was significantly more frequent in males (53.9% males vs. 9% females with a median age of onset of 6 and 19, respectively, p=0.829). Abnormalities in the laboratory tests, such as AST, ALT or CK were described in 62.5 % of the population (83.3% of males and 15.6% female). Muscle myopathy was described in 64 (49%) cases - 57 (63.3%) males and 7 (12.7%) females- at a median age of 13 years and 19, respectively (p=0.826). Overall, 51 patients (34.9 %) died or required a left ventricular assist device (LVAD) or heart transplant (HTx). Median age at the time of death/HTx/LVAD was 26 years and 52 years in males and females, respectively (p <0.001 by the log-rank test) (fig 1). Although not statistically significant, males were more likely to experience temporary complications after HTx compared to females (25% vs. 0%, p=0.136). Conclusions: Despite being an X linked disease, females with Danon have significant morbidity and a shortened lifespan. DCM is more prevalent in females, while HCM and post-Htx complications were more prevalent in males. Both genders had a prolonged survival as compared to prior studies, possibly reflecting increased awareness and earlier diagnosis.
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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) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| 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".