Noonan Syndrome Associated with a Patent Foramen Ovale

Abstract

Noonan syndrome is a genetic disorder characterised by abnormalities of the facial, musculoskeletal and cardiovascular systems. Pulmonary stenosis is the most common abnormality seen. We describe a 48-year-old male with clinical features of Noonan syndrome, and severe pulmonary stenosis with cyanosis. A long-standing history of effort intolerance was noted since childhood. The cause of cyanosis was unclear since an initial echo did not reveal an obvious shunt by Doppler imaging. An agitated saline contrast study performed confirmed a patent foramen ovale (PFO) with right to left shunting. PFO should be suspected and screened for in patients with Noonan syndrome and unexplained cyanosis.