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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

References

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