Archives of the Turkish Society of Cardiology
Diffuse hypoplasia of the aortic arch and isthmus in a patient with Williams syndrome [Turk Kardiyol Dern Ars]
Turk Kardiyol Dern Ars. 2017; 45(8): 758-762 | DOI: 10.5543/tkda.2017.77347

Diffuse hypoplasia of the aortic arch and isthmus in a patient with Williams syndrome

İsmihan Selen Onan1, Erkut Öztürk2, Aylin Demirel Başgöze1, Ayşe Çiçek1, Burak Onan1
1Department of Cardiovascular Surgery, İstanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, İstanbul, Turkey
2Department of Pediatric Cardiology, İstanbul Mehmet Akif Arsoy Thoracic and Cardiovascular Surgery Training and Research Hospital, İstanbul, Turkey

Williams syndrome is a rare neurodevelopmental disorder characterized by mental retardation, growth deficiency, hypercalcemia, cardiac defects, and a distinctive facial appearance. Cardiovascular abnormalities are present in approximately 80% of Williams syndrome patients. Surgical treatment is generally performed for supravalvular aortic stenosis, aortic coarctation, pulmonary artery stenosis, or ventricular septal defect. In rare cases, diffuse hypoplasia of the aortic arch with a normal left ventricular outflow tract and ascending aorta may be diagnosed in early childhood. Described herein is the case of a 16-month-old female with Williams syndrome and diffuse hypoplasia of the aortic arch and isthmus, and concomitant pulmonary stenosis and a ventricular septal defect. The patient underwent a successful surgical repair of the aortic arch with a modified pericardial patch technique.

Keywords: Aortic arch, hypoplasia; Williams syndrome.

How to cite this article
İsmihan Selen Onan, Erkut Öztürk, Aylin Demirel Başgöze, Ayşe Çiçek, Burak Onan. Diffuse hypoplasia of the aortic arch and isthmus in a patient with Williams syndrome. Turk Kardiyol Dern Ars. 2017; 45(8): 758-762

Corresponding Author: Burak Onan, Türkiye
© copyright 2018 Archives of the Turkish Society of Cardiology
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