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The imaging of the aortic fibrous membrane associated with Williams syndrome/Williams sendromu ile iliskili aortik fibroz membran goruntusu.

Williams syndrome (WS) is a rare multisystemic disorder caused by a microdeletion of chromosome 7 and is associated with dysmorphic facial features, supravalvular aortic stenosis (SVS) and other cardiovascular diseases, mental retardation, infantile hypercalciemia, and growth deficiency. The most significant medical problem associated with this syndrome is cardiovascular disease caused by narrowed arteries. Because of the variability in the way that WS affects different people, it often goes undiagnosed for many years. Clinical suspicion is essential because the diagnostic genetic finding is not detectable on routine chromosomal analysis and is not cost effective to screen all patients. We present the nicely transthoracic echocardiographic and angiographic images of the SVS caused by discrete fibrous membrane in a young patient with WS.

A 20-year-old woman was admitted for evaluation of her cardiac murmur. She was short in stature, had a characteristic face of WS and moderate mental retardation, whereas she was talkative and gregarious. On auscultation, a harsh systolic murmur that radiated to the bilateral neck vessels on the second sternal border was audible. The electrocardiogram revealed left ventricular hypertrophy, and chest radiography showed no abnormality. The transthoracic echocardiography detected no aortic valve or left ventricular outflow tract obstruction, however, there was 143 mmHg pressure gradient at the aortic level with Doppler echocardiography (Fig. 1A). On the suprasternal echocardiographic view (Fig 1A) and the aortogram (Fig. 1B and 1C, Video 1. See corresponding video/movie images at, a discrete fibrous membrane above sinuses of Valsalva was seen. The discrete fibrous membrane was confirmed at surgery, and aortoplasty for supravalvular aortic stenosis was performed successfully.


Haci Ciftci, Ozcan Ozeke (1), Fikri Kutlay *, Ugur Yuvanc (2)

From Departments of Cardiology and * Cardiovascular Surgery, Veni Vidi Hospital; (1) Department of Cardiology, Diyarbakir Military Hospital; (2) Department of Cardiology, Guneydogu Hospital, Diyarbakir, Turkey

Address for Correspondence/Yazisma Adresi: Ozcan Ozeke, MD Diyarbakir Asker Hastanesi Kardiyoloji Klinigi Diyarbakir, Turkey Mobile:+90 505 383 67 73 E-mail:
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Title Annotation:E-page Original Images/E-sayfa Orijinal Goruntuler
Author:Ciftci, Haci; Ozeke, Ozcan; Kutlay, Fikri; Yuvanc, Ugur
Publication:The Anatolian Journal of Cardiology (Anadolu Kardiyoloji Dergisi)
Article Type:Case study
Geographic Code:7TURK
Date:Apr 1, 2008
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