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Risk assessment and anesthetic management of patients with Williams syndrome: a comprehensive review.
Matisoff AJ, Olivieri L, Schwartz JM, Deutsch N. Matisoff AJ, et al. Paediatr Anaesth. 2015 Dec;25(12):1207-15. doi: 10.1111/pan.12775. Epub 2015 Oct 12. Paediatr Anaesth. 2015. PMID: 26456018 Review.
Widespread arteriopathy secondary to an elastin gene defect results in various cardiac defects, including supravalvar aortic stenosis (SVAS) and coronary artery anomalies, which can increase the risk of myocardial ischemia. ...
Widespread arteriopathy secondary to an elastin gene defect results in various cardiac defects, including supravalvar aortic …
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.
Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, McPherson E, Morris CA, Noonan J, Nowak C, Pierpont ME, Pyeritz RE, Rope AF, Zackai E, Pober BR. Lin AE, et al. Genet Med. 2008 Jul;10(7):469-94. doi: 10.1097/gim.0b013e3181772111. Genet Med. 2008. PMID: 18580689 Free PMC article. Review.
Individuals with syndromes comprise a significant proportion of those affected with selected congenital heart defects such as complete atrioventricular canal, interrupted arch type B, supravalvar aortic stenosis, and pulmonary stenosis. As these indivi …
Individuals with syndromes comprise a significant proportion of those affected with selected congenital heart defects such as complete atrio …
Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.
Stephens SB, Novy T, Spurzem GN, Jacob B, Beecroft T, Soludczyk E, Kozel BA, Weigand J, Morris SA. Stephens SB, et al. J Am Heart Assoc. 2024 Apr 16;13(8):e034048. doi: 10.1161/JAHA.123.034048. Epub 2024 Apr 9. J Am Heart Assoc. 2024. PMID: 38591341 Free article.
BACKGROUND: We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) following negative evaluation for Williams-Beuren syndrome (WS). METHODS AND RESULTS: This retrospective cohort study included patients with SVAS …
BACKGROUND: We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) follo …
GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, Keating MT, Osborne L, Kimberley KW, Stock AD. Morris CA, et al. Am J Med Genet A. 2003 Nov 15;123A(1):45-59. doi: 10.1002/ajmg.a.20496. Am J Med Genet A. 2003. PMID: 14556246
Most individuals with Williams syndrome (WS) have a 1.6 Mb deletion in chromosome 7q11.23 that encompasses the elastin (ELN) gene, while most families with autosomal dominant supravalvar aortic stenosis (SVAS) have point mutations in ELN. The overlap of the c …
Most individuals with Williams syndrome (WS) have a 1.6 Mb deletion in chromosome 7q11.23 that encompasses the elastin (ELN) gene, while mos …