Abstract
Williams syndrome, also known as Williams–Beuren syndrome and idiopathic hypercalcemia of infancy, is a multiorgan system collection of findings characterized by cardiac anomalies (most commonly supravalvular aortic stenosis [SVAS]), psychomotor retardation, idiopathic hypercalcemia, and characteristic dysmorphic facies (Elfin facies). The SVAS is not usually progressive unless it is moderate to severe at the time of diagnosis. Hypertension may also occur.
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Suggested Reading
Collins 2nd RT. Cardiovascular disease in Williams syndrome. Circulation. 2013;127:2125–34.
Committee on Genetics. American Academy of Pediatrics. Health care supervision for children with Williams syndrome. Pediatrics. 2001;107:1192–204. Erratum in: Pediatrics. 2002;109:329.
Dillman JR, Hernandez RJ. Role of CT in the evaluation of congenital cardiovascular disease in children. AJR Am J Roentgenol. 2009;192:1219–31.
Donnelly LF. Diagnostic imaging: pediatrics. 2nd ed. Salt Lake City: Amirsys; 2012.
Eronen M, Peippo M, Hiippala A, Raatikka M, Arvio M, Johansson R, Kähkönen M. Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet. 2002;39:554–8.
Ko JM. Genetic syndromes associated with congenital heart disease. Korean Circ J. 2015;45:357–61.
Krishnan A, Singh G. Pediatric supravalvar aortic stenosis. In: Medscape Reference. 2015. http://www.emedicine.medscape.com/article/892252. Accessed 16 Oct 2015.
Larson JS, Warner MA. Williams syndrome: an uncommon cause of supravalvular aortic stenosis in a child. J Cardiothorac Anesth. 1989;3:337–40.
McMahon C. Left ventricular outflow obstruction. In: Hoffman J, Moller J, editors. Pediatric cardiovascular medicine. 2nd ed. West Sussex: Blackwell; 2012. p. 416–7.
Soriano BD, Owens DS. Left heart anomalies. In: Lewin MB, Stout K, editors. Echocardiography in congenital heart disease. Philadelphia: Elsevier; 2012. p. 169–82.
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Davis, T., Richardson, R.R. (2017). Williams Syndrome. In: Atlas of Acquired Cardiovascular Disease Imaging in Children. Springer, Cham. https://doi.org/10.1007/978-3-319-44115-3_5
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DOI: https://doi.org/10.1007/978-3-319-44115-3_5
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