A rare case of williams–Beuren syndrome with presence of fibrocalcific supravalvular aortic stenosis and supravalvular pulmonary stenosis: Genetic disorder that bites the gene and bites the heart :Debasish Das, Anindya Banerjee, Abhinav Kumar, Shashikant Singh, Tutan Das, Manaranjan Dixit, Research in Cardiovascular Medicine

CASE REPORT
Year : 2022 | Volume : 11 | Issue : 4 | Page : 111--114

A rare case of williams–Beuren syndrome with presence of fibrocalcific supravalvular aortic stenosis and supravalvular pulmonary stenosis: Genetic disorder that bites the gene and bites the heart

Debasish Das, Anindya Banerjee, Abhinav Kumar, Shashikant Singh, Tutan Das, Manaranjan Dixit
Department of Cardiology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India

Correspondence Address:
Dr. Debasish Das
Department of Cardiology, All India Institute of Medical Sciences, Bhubaneswar - 751 019, Odisha
India

We report an extremely rare case of Williams–Beuren (WB) syndrome in a 10-year-old boy with supravalvular aortic stenosis (SVAS) secondary to a large fibrocalcific eccentric shelf in the ascending aorta with fibrocalcific severe supravalvular pulmonary stenosis, which has not yet been described in the literature. Although the presence of peripheral pulmonary stenosis is well described in Williams syndrome (WS), our case is the unique and first to demonstrate fibrocalcific severe supravalvular pulmonary stenosis in WS without the presence of peripheral pulmonary artery stenosis. Although regarded as a strong genetic insult with 27 gene deletions (almost like biting the gene), it has also bitten the heart in this index child and left a large chunk of supravalvular fibrocalcific mass in the ascending aorta causing SVAS.

How to cite this article:
Das D, Banerjee A, Kumar A, Singh S, Das T, Dixit M. A rare case of williams–Beuren syndrome with presence of fibrocalcific supravalvular aortic stenosis and supravalvular pulmonary stenosis: Genetic disorder that bites the gene and bites the heart.Res Cardiovasc Med 2022;11:111-114

How to cite this URL:
Das D, Banerjee A, Kumar A, Singh S, Das T, Dixit M. A rare case of williams–Beuren syndrome with presence of fibrocalcific supravalvular aortic stenosis and supravalvular pulmonary stenosis: Genetic disorder that bites the gene and bites the heart. Res Cardiovasc Med [serial online] 2022 [cited 2023 Apr 2 ];11:111-114
Available from: https://www.rcvmonline.com/article.asp?issn=2251-9572;year=2022;volume=11;issue=4;spage=111;epage=114;aulast=Das;type=0