title: Williams syndrome associated with complete atrioventricular septal defect.
abstract: Williams syndrome is a genetic disorder associated with characteristic facies, supravalvar aortic stenosis, peripheral pulmonary stenosis, mental retardation, hypertension, premature aging of skin, and congenital cardiac defects. Many cardiac defects such as bicuspid aortic valve, mitral valve regurgitation, coarctation of the aorta, and ventricular or atrial septal defects are linked to the syndrome. Complete atrioventricular septal defect has rarely been associated with Williams syndrome and only one necropsy case has been reported in the literature. The long term follow up of Williams syndrome associated with complete atrioventricular septal defect is reported. During a 10 year follow up period, the pressure gradient in the ascending aorta did not increase despite narrowing of the ascending aorta as identified on an aortogram.
authors.affiliation: Department of Cardiovascular Surgery, Kinki University School of Medicine, Osaka, Japan. snakamot@med.kindai.ac.jp
authors.forename: S
authors.initials: S
authors.lastname: Nakamoto
authors.forename: T
authors.initials: T
authors.lastname: Saga
authors.forename: T
authors.initials: T
authors.lastname: Shinohara
mesh_terms: D000293:Adolescent; D021921:Aortic Stenosis, Supravalvular / Q000000981:diagnostic imaging / Q000209:etiology / Q000503:physiopathology; D001794:Blood Pressure / Q000502:physiology; D005260:Female; D005500:Follow-Up Studies; D006343:Heart Septal Defects / Q000209:etiology* / Q000503:physiopathology / Q000601:surgery; D006801:Humans; D011184:Postoperative Period; D011859:Radiography; D018980:Williams Syndrome / Q000150:complications* / Q000000981:diagnostic imaging / Q000503:physiopathology