Cardiovascular manifestations of Williams syndrome: Imaging findings

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• 作者：J. Cranston Gray III ; Aleks ; er W. Krazinski ; U. Joseph Schoepf ; Felix G. Meinel ; Nicholas P. Pietris ; Pal Suranyi ; Anthony M. Hlavacek
• 关键词：Williams syndrome ; Cardiovascular CT angiography ; Supravalvular aortic stenosis ; Pulmonary artery stenosis ; Pediatric cardiothoracic surgery
• 刊名：Journal of Cardiovascular Computed Tomography
• 出版年：November-December, 2013
• 年：2013
• 卷：7
• 期：6
• 页码：400-407
• 全文大小：2062 K

文摘

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Summary

Williams syndrome is a relatively common (1 in 10,000 live births) genetic disorder caused by a deletion involving chromosome 7 that results in a variety of clinically significant abnormalities, including developmental delay, behavioral changes, hypercalcemia, and a distinct 鈥渆lfin鈥?facial appearance. Congenital cardiovascular disease that presents in childhood is responsible for most of the morbidity and mortality associated with this disorder. The purpose of this pictorial essay is to review imaging findings of some of the more common cardiovascular manifestations of Williams syndrome and to highlight some of the unique anatomic variations that can be seen in these patients.