Atrial Septal Defect Surgical Closure Following Trametinib Utilization in Noonan Syndrome-Associated Hypertrophic Cardiomyopathy.

Camden Hebson, Sydney Escott, Guillermo Beltran-Ale, Robert Dabal, Gregor Andelfinger, Kristin Linscott

Abstract readCase Reports

In one paragraph

Article in JACC. Case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

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5 · Who and what money

Authors and funding

6 authors.

Camden HebsonDivision of Pediatric Cardiology, Department of Pediatrics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA. Electronic address: chebson@uabmc.edu.

Sydney EscottDepartment of Pediatrics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.

Guillermo Beltran-AleDivision of Pediatric Pulmonology, Department of Pediatrics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.

Robert DabalDivision of Cardiothoracic Surgery, Department of Surgery, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.

Gregor AndelfingerCHU Sainte Justine, Department of Pediatrics, Université de Montréal, Montréal, Québec, Canada.

Kristin LinscottDepartment of Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNoonan syndrome-associated hypertrophic cardiomyopathy (NS-HCM) is often lethal when presenting severely in infancy, especially when associated with structural heart disease. Trametinib, an MEK inhibitor that attenuates abnormal signaling in the RAS/MAPK pathway, has been shown to improve NS-HCM outcomes. Surgery for associated heart defects in hypertrophic cardiomyopathy remains worrisome for increased risk of complications. FIRST-IN-HUMAN/EARLY REPORTS SUMMARY: An infant presented with a large secundum atrial septal defect complicating NS-HCM. The patient was treated with trametinib to improve cardiac hypertrophy and then underwent successful surgical closure of the atrial septal defect. DISCUSSION: This serial strategy allowed for rescue from severe heart failure presentation to eventual discharge home without cardiac symptoms. NOVELTY: This is, to our knowledge, the first patient with NS-HCM to undergo medical treatment with trametinib and then cardiac surgery for a structural heart defect. TAKE-HOME MESSAGES: Infants with severe presentations of NS-HCM and congenital heart defects can be medically stabilized with trametinib and then undergo successful structural heart surgery.

Indexed as

atrial septal defectcardiac surgeryhypertrophic cardiomyopathyMEK inhibitionNoonan syndromeRASopathy

Identifiers

PMID41718520

DOI10.1016/j.jaccas.2026.107006

PMCPMC13080820

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