Hostname: page-component-586b7cd67f-l7hp2 Total loading time: 0 Render date: 2024-11-26T22:49:55.387Z Has data issue: false hasContentIssue false
  • English
  • Français

An infant with Williams–Beuren syndrome and Ebstein anomaly

Published online by Cambridge University Press:  14 May 2010

Derek A. Williams  and
Amanda L. Cook
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]
Get access Rights & Permissions [Opens in a new window]

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.

Keywords

Congenital cardiac diseasegenetic syndromestricuspid valve disease
Type
Brief Reports
Information
Cardiology in the Young , Volume 20 , Issue 4 , August 2010 , pp. 445 - 447
Copyright
Copyright © Cambridge University Press 2010

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1. Williams, JC, Barratt-Boyes, BG, Lowe, JB. Supravalvular aortic stenosis. Circulation 1961; 24: 1311–1318.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: 1235–1240.CrossRefGoogle Scholar
3. Stromme, P, Bjornstad, PG, Ramstad, K. Prevalence estimation of Williams syndrome. J Child Neurol 2002; 17: 269–271.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: 11–16.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: 532–536.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): S106–S117.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): 356–370.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: 221–222.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: 50–52.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: 367–372.Google ScholarPubMed