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Atrial Septal Defect Surgical Closure Following Trametinib Utilization in Noonan Syndrome-Associated Hypertrophic
Camden Hebson1, Sydney Escott2, Guillermo Beltran-Ale3
1Division of Pediatric Cardiology, Department of Pediatrics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Trametinib effectively treated severe Noonan syndrome-associated hypertrophic cardiomyopathy (NS-HCM) in an infant. Subsequent surgical closure of an atrial septal defect led to full recovery and discharge.
Area of Science:
- Cardiology
- Pediatric Cardiology
- Pharmacology
Background:
- Noonan syndrome-associated hypertrophic cardiomyopathy (NS-HCM) presents a high mortality risk in infants, particularly with co-existing structural heart disease.
- RAS/MAPK pathway dysregulation is implicated in NS-HCM, with MEK inhibitors like trametinib showing promise.
- Surgical intervention for congenital heart defects in hypertrophic cardiomyopathy patients carries significant risks.
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