Annals of Pediatric Cardiology 2011-Jul
Supravalvular aortic stenosis in William's syndrome.
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Abstract
We report supravalvular aortic stenosis in a 12 year old patient who presented with mental retardation, malformed teeth, broad lower lips, pectus carinatum, clinodactyly, kyphoscoliosis with symptoms of shortness of breath. On examination presence of better volume pulse in right radial artery with ejection systolic murmur best heard in right 2(nd) intercostal space were noted. Patient was diagnosed as having William's syndrome with investigations demonstrating Supravalvular aortic stenosis with a gradient of 170 mm Hg.