Williams Syndrome presenting with Supra valvular Aortic Stenosis: A Case Report

Authors

  • SM Shaheedul Islam Fellowship in Pediatric Cardiology, Associate Professor & Consultant in Pediatric Cardiology, Ibrahim Cardiac Hospital & Research Institute (ICHRI), Dhaka
  • F Aaysha Cader Assistant Registrar in Cardiology, ICHRI, Dhaka
  • M Maksumul Haq Professor & Head, Department of Cardiology, ICHRI, Dhaka
  • - Md Rokonujjaman Fellowship in Congenital & Pediatric Cardiac Surgery (ESCORTS Hospital, India & Seoul National University Hospital, South Korea), Assistant Professor & Associate Consultant, ICHRI, Dhaka
  • Sahela Nasrin Associate Consultant & Assistant Professor, ICHRI, Dhaka

DOI:

https://doi.org/10.3329/icmj.v4i1.52873

Keywords:

Williams Syndrome, Supra-Valvular Aortic Stenosis (SVAS). Chromosome 7qll.23.

Abstract

Williams Syndrome is described in children presenting with Supra-valvular Aortic Stenosis (SVAS) and typical dysmorphic 'Elfin facies' with characteristic neurocognitive profile. SVAS, a congenital narrowing of the ascending aorta, occurs sporadically but can also occur as a component of Williams Syndrome, with which it shares similar genetic microdeletion of the elastin gene on chromosome 7qll.23, responsible for the vasculopathy as well as certain morphological features of the syndrome. We report the case of a 5 year old girl, who presented with chest pain and a heart murmur, along with typical 'Elfinfacies', whose investigation led to the diagnosis of SVAS presenting with Williams Syndrome.

Ibrahim Cardiac Med J 2014; 4(1): 42-47

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Published

2015-12-05

How to Cite

Islam, S. S., Cader, F. A., Haq, M. M., Md Rokonujjaman, .-., & Nasrin, S. (2015). Williams Syndrome presenting with Supra valvular Aortic Stenosis: A Case Report. Ibrahim Cardiac Medical Journal, 4(1), 42–47. https://doi.org/10.3329/icmj.v4i1.52873

Issue

Vol. 4 No. 1 (2014)

Section

Case Reports