Aortic root replacement for annuloaortic ectasia in Shprintzen-Goldberg syndrome: a case report

J Heart Valve Dis. 1997 Mar;6(2):181-3.


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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Abnormalities, Multiple* / physiopathology
  • Aorta / surgery
  • Aortic Valve / abnormalities*
  • Aortic Valve / surgery
  • Aortic Valve Insufficiency / complications
  • Aortic Valve Insufficiency / diagnosis
  • Aortic Valve Insufficiency / surgery*
  • Cardiac Surgical Procedures / methods*
  • Child
  • Disease-Free Survival
  • Echocardiography, Doppler
  • Humans
  • Male
  • Marfan Syndrome* / diagnosis