Debasish Das, A. Banerjee, Abhinav Kumar, S. Singh, Tutan Das, Manaranjan Dixit
{"title":"一例罕见的williams–Beuren综合征伴纤维钙化性瓣上主动脉瓣狭窄和瓣上肺动脉瓣狭窄:基因和心脏的遗传性疾病","authors":"Debasish Das, A. Banerjee, Abhinav Kumar, S. Singh, Tutan Das, Manaranjan Dixit","doi":"10.4103/rcm.rcm_9_22","DOIUrl":null,"url":null,"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.","PeriodicalId":21031,"journal":{"name":"Research in Cardiovascular Medicine","volume":null,"pages":null},"PeriodicalIF":0.2000,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"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\",\"authors\":\"Debasish Das, A. Banerjee, Abhinav Kumar, S. Singh, Tutan Das, Manaranjan Dixit\",\"doi\":\"10.4103/rcm.rcm_9_22\",\"DOIUrl\":null,\"url\":null,\"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.\",\"PeriodicalId\":21031,\"journal\":{\"name\":\"Research in Cardiovascular Medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.2000,\"publicationDate\":\"2022-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Research in Cardiovascular Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/rcm.rcm_9_22\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Research in Cardiovascular Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/rcm.rcm_9_22","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
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
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.