CASE REPORT

Williams syndrome associated with complete atrioventricular septal defect

S Nakamoto¹, T Saga¹, T Shinohara²

¹ Department of Cardiovascular Surgery, Kinki University School of Medicine, Osaka, Japan
² Department of Paediatric Cardiology, Kinki University School of Medicine

Correspondence to:
Correspondence to:
Dr S Nakamoto, Department of Cardiovascular Surgery, Kinki University School of Medicine, 377-2 Ohno-Higasi, Osakasayama, Osaka 589-8511, Japan;
snakamot{at}med.kindai.ac.jp

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.

Keywords: Williams syndrome; complete atrioventricular septal defect; multiple pulmonary stenosis; supravalvar aortic stenosis

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