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Background <p>Williams syndrome is a rare genetic condition frequently associated with cardiovascular anomalies, particularly supravalvular aortic stenosis. The coexistence of supravalvular aortic stenosis, aneurysmal dilation, and infective endocarditis with vegetations in the aortic arch is exceedingly rare.</p> Case presentation <p>We describe an 8-year-old Arab boy from Syria with Williams syndrome who presented with fatigue, tachycardia, dyspnea, fever, chills, and night sweats. Transthoracic echocardiography revealed a dilated aortic arch with large vegetation at the origin of the brachiocephalic trunk and supravalvular aortic stenosis. Despite 10 days of intravenous antibiotic therapy, vegetations persisted, necessitating urgent surgery. The ascending aorta was replaced using the McGoon technique with complete excision of infected tissue. Postoperative recovery was uneventful, and follow-up imaging showed good left ventricular function without aortic gradient.</p> Conclusions <p>This case underscores the importance of early recognition and timely surgical intervention in preventing catastrophic outcomes in patients with Williams syndrome and complex cardiovascular involvement.</p>

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Supravalvular aortic stenosis with aneurysmal dilation and infective vegetations of the aortic arch in a pediatric patient with Williams syndrome: a case report and review of the literature

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年2月11日

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  • Ahmad Bishr Nasra,
  • Alwaleed Al-Dairy,
  • Aram Almohamad,
  • Ahmad Jabr,
  • Younes Al-Dairy

摘要

Background

Williams syndrome is a rare genetic condition frequently associated with cardiovascular anomalies, particularly supravalvular aortic stenosis. The coexistence of supravalvular aortic stenosis, aneurysmal dilation, and infective endocarditis with vegetations in the aortic arch is exceedingly rare.

Case presentation

We describe an 8-year-old Arab boy from Syria with Williams syndrome who presented with fatigue, tachycardia, dyspnea, fever, chills, and night sweats. Transthoracic echocardiography revealed a dilated aortic arch with large vegetation at the origin of the brachiocephalic trunk and supravalvular aortic stenosis. Despite 10 days of intravenous antibiotic therapy, vegetations persisted, necessitating urgent surgery. The ascending aorta was replaced using the McGoon technique with complete excision of infected tissue. Postoperative recovery was uneventful, and follow-up imaging showed good left ventricular function without aortic gradient.

Conclusions

This case underscores the importance of early recognition and timely surgical intervention in preventing catastrophic outcomes in patients with Williams syndrome and complex cardiovascular involvement.