title: Cardiovascular manifestations of Williams syndrome: imaging findings.
abstract: 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 "elfin" 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.
authors: Department of Radiology and Radiological Science, Medical University of South Carolina, 25 Courtenay Dr, Charleston, SC 29425, USA.
authors: J Cranston
authors: JC
authors: Gray
authors: Department of Radiology and Radiological Science, Medical University of South Carolina, 25 Courtenay Dr, Charleston, SC 29425, USA.
authors: Aleksander W
authors: AW
authors: Krazinski
authors: Department of Radiology and Radiological Science, Medical University of South Carolina, 25 Courtenay Dr, Charleston, SC 29425, USA. Electronic address: schoepf@musc.edu.
authors: U Joseph
authors: UJ
authors: Schoepf
authors: Department of Radiology and Radiological Science, Medical University of South Carolina, 25 Courtenay Dr, Charleston, SC 29425, USA; Institute for Clinical Radiology, Ludwig-Maximilians-University Hospital, Munich, Germany.
authors: Felix G
authors: FG
authors: Meinel
authors: Division of Pediatric Cardiology, Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA.
authors: Nicholas P
authors: NP
authors: Pietris
authors: Department of Radiology and Radiological Science, Medical University of South Carolina, 25 Courtenay Dr, Charleston, SC 29425, USA.
authors: Pal
authors: P
authors: Suranyi
authors: Department of Radiology and Radiological Science, Medical University of South Carolina, 25 Courtenay Dr, Charleston, SC 29425, USA; Division of Pediatric Cardiology, Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA.
authors: Anthony M
authors: AM
authors: Hlavacek
mesh_terms: D002648:Child; D002675:Child, Preschool; D017023:Coronary Angiography / Q000379:methods*; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D007223:Infant; D008297:Male; D014057:Tomography, X-Ray Computed / Q000379:methods*; D018980:Williams Syndrome / Q000000981:diagnostic imaging*
keywords: Cardiovascular CT angiography; Pediatric cardiothoracic surgery; Pulmonary artery stenosis; Supravalvular aortic stenosis; Williams syndrome