C. Noah Nilsson, Othman A. Aljohani, Michael A. Smith, Rachelle Durand, Inger Norlyk Sheyanth, Hythem Nawaytou, Elliot Stieglitz, Russel Valle, Sanjeev A. Datar
University of California San Francisco. Copenhagen University Hospital.
United States and Denmark
Clinical Case Reports
Clin Case Rep 2026; 14:
DOI: 10.1002/ccr3.72831
Abstract
This case describes a female infant with RAF1-related Noonan syndrome who developed severe hypertrophic obstructive cardiomyopathy, pulmonary hypertension, and cardiorespiratory failure that responded to trametinib treatment but ultimately progressed to death following dose tapering and discontinuation of therapy. To the best of our knowledge, this is the first case with detailed respiratory information in a trametinib-treated patient with RASopathy-related pulmonary disease.
Category
Genetic Factors Associated with Pulmonary Vascular Disease
Class II. Pulmonary Hypertension Associated with Left Ventricular Systolic or Diastolic Dysfunction
Medical Therapy. Efficacy or Lack of Efficacy
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes