Annuloaortic ectasia due to Shprintzen-Goldberg syndrome (SGS) is reported. A 
10-year-old boy was admitted to our hospital for evaluation of chest pain. On 
admission, he was diagnosed as SGS on the basis of his various anomalies. 
Two-dimensional echocardiography showed a bicuspid aortic valve and marked 
annular dilatation, Doppler flow studies revealed severe aortic regurgitation, 
and retrograde aortography showed severe aortic regurgitation with annular 
dilatation. Successful aortic root replacement was performed; subsequent 
histologic examination of the ascending aorta demonstrated cystic medial 
necrosis. In conclusion, SGS is a generalized connective tissue dysplasia, with 
clinical manifestations of cardiovascular lesions similar to those in Marfan 
syndrome. Aortic root replacement was successfully performed; however, 
recurrence of aortic aneurysms outside of the ascending aorta should be 
carefully observed. Surgical treatment for cardiovascular disorders may be 
necessary to save the life of patients with SGS.