REVIEW ARTICLE Williams-Beuren Syndrome: Computed Tomography Imaging Review Karuna M. Das • Tarek S. Momenah • Sven G. Larsson • Shehla Jadoon • Abdullah S. Aldosary • Edward Y. Lee Received: 16 June 2014 / Accepted: 31 July 2014 / Published online: 20 August 2014 Ó Springer Science+Business Media New York 2014 Abstract Williams-Beuren syndrome (WBS) affects young infants and children. The underlying etiopatho- genesis of this rare disease is due to the mutation of the elastin gene that is responsible for the elasticity of the arterial wall. As a result of inadequate elastin production, the major systemic arteries become abnormally rigid and can be manifested by an impediment to the blood flow. The most common cardiovascular abnormalities encoun- tered in WBS are supravalvular aortic stenosis, pul- monary arterial stenosis, and mitral valve prolapse. Less frequently observed cardiovascular abnormalities include coarctation of the aorta, ventricular septal defect, patent ductus, subaortic stenosis, and hypertrophic cardiomy- opathy. Coronary artery stenosis and severe impediment to the bi-ventricular outflow as a result of supravalvular aortic and pulmonary artery stenosis predispose patients to sudden death. Patients with progressed arterial stenosis and severe stenosis are likely to require intervention to prevent serious complications. Rarely, imaging findings may precede clinical presentation, which allows the radiologist to participate in the patient care. However, to be more prudent, the radiologist must be accustomed to the imaging characteristics of WBS as well as the patient’s clinical information, which could raise the suspicion of WBS. We performed a retrospective ana- lysis of all the available images from patients diagnosed with WBS in last 4 years at our institution, and present key imaging findings along with a review of the litera- ture to summarize the clinically relevant features as demonstrated by multidetector computed tomography in WBS. Cross-sectional imaging plays a vital role in the diagnosis of WBS cases with equivocal clinical features. MDCT evaluation of complex cardiovascular abnormal- ities of WBS including coronary artery disease is feasi- ble with modern MDCT scanners and in the future, this approach could provide accurate information for plan- ning, navigation, and noninvasive assessment of the secondary arterial changes in WBS and thus reducing the dependence upon invasive contrast catherization techniques. Keywords Williams-Beuren syndrome Á Supravalvular aortic stenosis Á Supravalvular pulmonary artery stenosis Á Coronary artery disease Á Pulmonary artery diverticulum Á MDCT Introduction Williams-Beuren syndrome (WBS) is a condition that affects young infants and children. Patients present with obstructive lesions of large- and medium-sized arteries due to generalized arteriopathy. WBS is an autosomal dominant inheritance condition characterized by typical facies, mild mental retardation, extroverted personality, growth delay, and congenital disorders involving K. M. Das (&) Á S. G. Larsson Á A. S. Aldosary Department of Medical Imaging, King Fahad Medical City, Riyadh 11525, Kingdom of Saudi Arabia e-mail: daskmoy@gmail.com T. S. Momenah Á S. Jadoon Department of Pediatric Cardiology, Prince Salman Heart Center, King Fahad Medical City, Riyadh 11525, Kingdom of Saudi Arabia E. Y. Lee Departments of Radiology and Medicine, Pulmonary Divisions, Boston Children’s Hospital and Harvard Medical School, Boston, MA 02115, USA 123 Pediatr Cardiol (2014) 35:1309–1320 DOI 10.1007/s00246-014-0998-z