AORTIC ROOT REPLACEMENT FOR ANNULOAORTIC ECTASIA IN SHPRINTZEN-GOLDBERG SYNDROME - A CASE-REPORT

Annuloaortic ectasia due to Shprintzen-Goldberg syndrome (SGS) is repo rted. 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 reve aled severe aortic regurgitation, and retrograde aortography showed se vere aortic regurgitation with annular dilatation. Successful aortic r oot replacement was performed; subsequent histologic examination of th e ascending aorta demonstrated cystic medial necrosis. In conclusion, SGS is a generalized connective tissue dysplasia, with clinical manife stations of cardiovascular lesions similar to those in Marfan syndrome . Aortic root replacement was successfully performed; however, recurre nce of aortic aneurysms outside of the ascending aorta should be caref ully observed. Surgical treatment for cardiovascular disorders may be necessary to save the life of patients with SGS.