Trametinib Therapy for Hypertrophic Cardiomyopathy and Pulmonary Hypertension in a Child With RAF1 ‐Related Noonan Syndrome (p. Ser257Leu ): A Case Report

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.