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A 31 year old man was admitted for evaluation of dyspnoea and heart murmur. He had had exertional dyspnoea for several years. He had a typical posture with short stature and elfin face typical of Williams syndrome, characterised by protruded forehead, underdeveloped mandible and bridge of nose, and epicanthal folds. On auscultation, a mid systolic ejection murmur with 4/6 grade was best heard on the first right interspace and transmitted into the jugular notch and along the carotid vessels. ECGs revealed left ventricular hypertrophy, and chest radiography showed mild cardiomegaly and engorged pulmonary vasculature. A transoesophageal echocardiogram showed tubular narrowing and thickening of the aortic wall above the sinus (arrowhead in panel A; LA, left atrium; LV, left ventricle). Continuous wave Doppler across the supravalvar narrowing revealed a maximal pressure gradient of 126 mm Hg. T1 weighted image on cardiac magnetic resonance imaging showed typical hour glass shaped narrowing of the aorta just above the sinus (arrowhead in panel B). This resulted in the typical appearance of a tubular deformity (arrowhead in panel C) on aortic root angiography. Left ventricular catheter pullback to the aorta revealed a peak-to-peak gradient between the left ventricle and ascending aorta of over 70 mm Hg. The patient was transferred for surgery.
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