A case of Noonan's syndrome with primary pulmonary hypertension is reported.
The patient has multiple anomalies (small mandible, high arched palate, low set ears, hypertelorism, and webbed neck). He has normal karyotype. Cardiac examinations show pulmonary hypertension, right ventricular hypertrophy, high RPEP/RVET and no other shunt diseases.
We consider that this is the first reported case of Noonan's syndrome with primary pulmonary hypertension.