Abstract
Cardiovascular abnormality is the most consistent finding and occur in almost 80 % of all Williams syndrome (WS). Although a number of cardiovascular defects are common to WS, the majority presents in some form of arterial stenosis whereas supravalvular aortic stenosis is the most common one. Here we describe a 12 year old boy with elfin facies, presenting with urinary incontinence and a systolic murmur in right upper parasternal region. Echocardiography showed presence of double chambered right ventricle (DCRV) along with supravalvular aortic stenosis (SVAS) and coronary artery aneurysms, left pulmonary artery stenosis and multiple bladder diverticula in CT abdomen. With the clinical suspicion the diagnosis of WS was made and confirmed by fluorescent in situ hybridisation (FISH) study showing deletion in 7q11.23. Though different forms of arterial stenosis at multiple sites have been demonstrated in WS, DCRV in Williams syndrome is not reported till date in medical literature.