OBJECTIVES: Noonan syndrome is a rare disease presenting with phenotypic features. Over two-thirds of patients with Noonan Syndrome have congenital heart defects with pulmonic stenosis as the most common cardiac abnormality. As a means of focusing on these complications, we report three patients with stigmata of Noonan Syndrome, each of whom had a combination of pulmonic stenosis and other cardiac abnormalities.

PATIENTS AND METHODS: The clinical features and cardiac abnormalities of three patients with Noonan Syndrome were studied, and a literature review on cardiovascular manifestations of this syndrome was undertaken.

RESULTS: The three patients we report had physical features compatible with Noonan Syndrome. Pulmonic stenosis is common among three cases and other cardiac abnormalities were also noted with the aid of 2D-echocardiogram.

CONCLUSION: The existence of several types of cardiac abnormalities within one syndrome is unusual and requires further investigation. Thorough history and physical examination is of utmost importance in diagnosing a rare condition with associated cardiac abnormalities. Recognition of common abnormalities in patients with Noonan Syndrome would aid both clinical course and management of this rare condition.

Human ; Female ; Adult ; Noonan Syndrome ; Craniofacial Abnormalities ; Pulmonary Valve Stenosis ; Heart Septal Defects, Atrial