RVOT Stenting and Trametinib in an Infant With Noonan Syndrome, Pulmonary Stenosis, and Hypertrophic Cardiomyopathy

Right ventricular outflow tract stenting is a well-established palliative strategy primarily used for infants with tetralogy of Fallot but has not been reported for pulmonary valve stenosis in infants with Noonan syndrome.

We describe an infant with a history of extreme prematurity, Noonan syndrome, hypertrophic cardiomyopathy, and severe valvular and supravalvular pulmonic stenosis who underwent right ventricular outflow tract stenting and mitogen-activated protein kinase kinase (MEK) inhibitor therapy.

This unique approach ultimately allowed for discharge home and postponement of surgical repair until 18 months of age.

Right ventricular outflow tract stenting is a viable mode of palliation in infants with Noonan syndrome and pulmonary valve stenosis who are not ideal surgical candidates. An increasing number of case reports are demonstrating the efficacy of MEK inhibition as an effective tool for treatment of Noonan syndrome-associated hypertrophic cardiomyopathy.