Williams syndrome in an adult

J Card Surg. 2010 May;25(3):339-42. doi: 10.1111/j.1540-8191.2010.01020.x.

Abstract

We report a case of a diagnosis of Williams syndrome in a 57-year-old male referred for cardiac surgery with a presumptive diagnosis of aortic valvular stenosis and ascending aortic aneurysm, supravalvular stenosis being first suspected during surgery. Williams syndrome was subsequently confirmed via genetics testing. In patients presenting with an ascending aortic aneurysm, developmental delay, and with poorly visualized coronary arteries during angiography, the diagnosis of supravalvular aortic stenosis or Williams syndrome should be considered.

Publication types

  • Case Reports

MeSH terms

  • Age Factors
  • Aorta / pathology
  • Aortic Aneurysm, Thoracic / diagnosis
  • Aortic Aneurysm, Thoracic / pathology
  • Aortic Aneurysm, Thoracic / surgery
  • Aortic Rupture / diagnosis
  • Aortic Rupture / pathology
  • Aortic Rupture / surgery
  • Genetic Testing
  • Humans
  • Male
  • Middle Aged
  • Williams Syndrome / diagnosis*
  • Williams Syndrome / genetics
  • Williams Syndrome / surgery