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

Abstract

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.

Keywords

• gene
• supravalvular aortic stenosis
• supravalvular pulmonary stenosis
• williams syndrome