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Case Reports
. 2009 Jul;2(2):165-6.
doi: 10.4103/0974-2069.58322.

Williams syndrome and Ebstein's anomaly: A rare association

Vishal Changela  1 , Sunita Maheshwari, Meenakshi Bhat
Affiliations
Case Reports

Williams syndrome and Ebstein's anomaly: A rare association

Vishal Changela et al. Ann Pediatr Cardiol. 2009 Jul.

Abstract

We report a rare case of Williams syndrome associated with Ebstein's anomaly of the tricuspid valve. To our knowledge, such an association has never been reported.

Keywords: Congenital heart disease; elastin haploinsufficiency; florescence in situ hybridization.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
The distinctive facial features such as periorbital fullness, full cheeks with prominent naso-labial folds, thick lips, and widely spaced permanent dentition suggestive of Williams syndrome in the patient
Figure 2
Figure 2
A transthoracic echocardiographic image (at apical four-chamber window) showing apical displacement of the tricuspid valve and atrialized portion of the right ventricle, which is characteristic of Ebstein’s anomaly of the tricuspid valve. (ARV - Atrialized right ventricle, FRV - Functional right ventricle, LA - Left atrium, LV - Left ventricle, MV - Mitral valve, RA - Right atrium, STL - Septal tricuspid leaflet)
See this image and copyright information in PMC

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References

    1. Wessel A, Pankau R, Kececioglu D, Ruschewski W, Bursch JH. Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome. Am J Med Genet. 1994;52:297–301. - PubMed
    1. Lowery MC, Morris CA, Ewart A, Brothman LJ, Zhu XL, Leonard CO, et al. Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: Evaluation of 235 patients. Am J Hum Genet. 1995;57:49–53. - PMC - PubMed
    1. Hallidie-Smith KA, Karas S. Cardiac anomalies in Williams-Beuren syndrome. Arch Dis Child. 1988;63:809–13. - PMC - PubMed
    1. Zalzstein E, Moes CA, Musewe NN, Freedom RM. Spectrum of cardiovascular anomalies in Williams-Beuren syndrome. Pediatr Cardiol. 1991;12:219–23. - PubMed
    1. Kim YM, Yoo SJ, Choi JY, Kim SH, Bae EJ, Lee YT. Natural course of supravalvar aortic stenosis and peripheral pulmonary arterial stenosis in Williams’ syndrome. Cardiol Young. 1999;9:37–41. - PubMed

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