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An infant with Williams–Beuren syndrome and Ebstein anomaly

Published online by Cambridge University Press:  14 May 2010

Derek A. Williams*
Affiliation:
Division of Pediatric Cardiology, Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States of America
Amanda L. Cook
Affiliation:
Division of Pediatric Cardiology, Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States of America
*
Correspondence to: D. A. Williams, Wake Forest University School of Medicine, Medical Center Boulevard, Winston-Salem, NC 27157, United States of America. Tel: +336 716 3232; Fax: +336 716 0533; E-mail: [email protected]

Abstract

We report an infant with Ebstein anomaly of the tricuspid valve and severe branch pulmonary artery stenosis who was diagnosed with Williams–Beuren syndrome.

Type
Brief Reports
Copyright
Copyright © Cambridge University Press 2010

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References

1. Williams, JC, Barratt-Boyes, BG, Lowe, JB. Supravalvular aortic stenosis. Circulation 1961; 24: 13111318.CrossRefGoogle ScholarPubMed
2. Beuren, AJ, Apitz, J, Harmjanz, D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 1962; 26: 12351240.CrossRefGoogle Scholar
3. Stromme, P, Bjornstad, PG, Ramstad, K. Prevalence estimation of Williams syndrome. J Child Neurol 2002; 17: 269271.CrossRefGoogle ScholarPubMed
4. Ewart, AK, Morris, CA, Atkinson, D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993; 5: 1116.CrossRefGoogle Scholar
5. Bruno, E, Rossi, N, Thuer, O, Cordoba, R, Alday, LE. Cardiovascular findings, and clinical course, in patients with Williams syndrome. Cardiol Young 2003; 13: 532536.CrossRefGoogle ScholarPubMed
6. Dearani, JA, Danielson, GK. Congenital heart surgery nomenclature and database project: Ebstein’s anomaly and tricuspid valve disease. Ann Thorac Surg 2000; 69 (4 Suppl): S106S117.CrossRefGoogle ScholarPubMed
7. Shiina, A, Seward, JB, Edwards, WD, Hagler, DJ, Tajik, AJ. Two-dimensional echocardiographic spectrum of Ebstein’s anomaly: detailed anatomic assessment. J Am Coll Cardiol 1984; 3 (2 Pt 1): 356370.CrossRefGoogle ScholarPubMed
8. Johnson, CD, Ortiz-Colom, PM, Sainz de la Pena, H, Barroso, E. Ebstein’s anomaly in a patient with down’s syndrome. Bol Asoc Med P R 1989; 81: 221222.Google Scholar
9. Chang, YC, Wu, JM, Lin, SJ, Wu, MH. Common atrium with Ebstein’s anomaly in a neonate with Ellis-van Creveld syndrome. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1995; 36: 5052.Google Scholar
10. Wright, NL, Summitt, RL, Ainger, LE. Noonan’s syndrome and Ebstein’s malformation of the tricuspid valve. Am J Dis Child 1968; 116: 367372.Google ScholarPubMed