A case of Noonan's syndrome with numerous cardiac abnormalities.

OBJECTIVE

To report a case of Noonan's syndrome in a patient with numerous cardiac abnormalities.

METHODS

We present a case report of a patient with Noonan's syndrome, including clinical, laboratory, and radiologic findings, and discuss the characteristic features of this condition.

RESULTS

A 19-year-old male patient had most of the typical clinical findings of Noonan's syndrome-dysmorphic face, short stature, ear abnormalities, cryptorchidism, webbed neck, and high palate. In addition, mitral valve prolapse, secondary mitral insufficiency, left ventricular hypertrophy, and secondary tricuspid insufficiency were diagnosed. Although some cardiac abnormalities have been reported in patients with this syndrome, a case with numerous cardiac abnormalities has not been described previously.

CONCLUSION

Noonan's syndrome is a rare disorder with characteristic clinical features and cardiac abnormalities. Although previously reported cases have described cardiovascular anomalies, on review of the literature we found no other case with numerous cardiac abnormalities.