title: Aortic root replacement for annuloaortic ectasia in Shprintzen-Goldberg syndrome: a case report.
abstract: 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.
authors.affiliation: Second Department of Surgery, Kurume University School of Medicine, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Fukunaga
authors.forename: H
authors.initials: H
authors.lastname: Akashi
authors.forename: K
authors.initials: K
authors.lastname: Tayama
authors.forename: H
authors.initials: H
authors.lastname: Kawano
authors.forename: K
authors.initials: K
authors.lastname: Kosuga
authors.forename: S
authors.initials: S
authors.lastname: Aoyagi
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000503:physiopathology; D001011:Aorta / Q000601:surgery; D001021:Aortic Valve / Q000002:abnormalities* / Q000601:surgery; D001022:Aortic Valve Insufficiency / Q000150:complications / Q000175:diagnosis / Q000601:surgery*; D006348:Cardiac Surgical Procedures / Q000379:methods*; D002648:Child; D018572:Disease-Free Survival; D015150:Echocardiography, Doppler; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis