Rabah Al-Mehisen, Ramy El Essely, M. Al-Mallah, M. Al-Mohaissen, T. Kashour
{"title":"四尖瓣主动脉瓣,单冠状动脉,孤立肾和斜面裂。先天性畸形的独特星座:病例报告和文献回顾","authors":"Rabah Al-Mehisen, Ramy El Essely, M. Al-Mallah, M. Al-Mohaissen, T. Kashour","doi":"10.4172/2157-7412.1000291","DOIUrl":null,"url":null,"abstract":"Quadricuspid aortic valve (QAV) is a rare congenital anomaly which is associated with coronary artery anomalies in 10% of the patients. The association of QAV with single coronary artery (SCA) is very rare has been reported only in one case previously. We report the case of a 30-year-old male patient with a unique constellation of congenital anomalies including QAV, SCA, solitary kidney and Tessier type 3 oblique facial cleft with cleft palate. To our knowledge, this unique combination has never been described previously. We describe his case and review the topic of QAV and its reported cardiac and systemic associations.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"39 1","pages":"1-6"},"PeriodicalIF":0.0000,"publicationDate":"2016-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"4","resultStr":"{\"title\":\"Quadricuspid Aortic Valve, Single Coronary Artery, Solitary Kidney and Oblique Facial Cleft. A Unique Constellation of Congenital Abnormalities: Case Report and Review of the Literature\",\"authors\":\"Rabah Al-Mehisen, Ramy El Essely, M. Al-Mallah, M. Al-Mohaissen, T. Kashour\",\"doi\":\"10.4172/2157-7412.1000291\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Quadricuspid aortic valve (QAV) is a rare congenital anomaly which is associated with coronary artery anomalies in 10% of the patients. The association of QAV with single coronary artery (SCA) is very rare has been reported only in one case previously. We report the case of a 30-year-old male patient with a unique constellation of congenital anomalies including QAV, SCA, solitary kidney and Tessier type 3 oblique facial cleft with cleft palate. To our knowledge, this unique combination has never been described previously. We describe his case and review the topic of QAV and its reported cardiac and systemic associations.\",\"PeriodicalId\":89584,\"journal\":{\"name\":\"Journal of genetic syndromes & gene therapy\",\"volume\":\"39 1\",\"pages\":\"1-6\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2016-03-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"4\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of genetic syndromes & gene therapy\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4172/2157-7412.1000291\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of genetic syndromes & gene therapy","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4172/2157-7412.1000291","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Quadricuspid Aortic Valve, Single Coronary Artery, Solitary Kidney and Oblique Facial Cleft. A Unique Constellation of Congenital Abnormalities: Case Report and Review of the Literature
Quadricuspid aortic valve (QAV) is a rare congenital anomaly which is associated with coronary artery anomalies in 10% of the patients. The association of QAV with single coronary artery (SCA) is very rare has been reported only in one case previously. We report the case of a 30-year-old male patient with a unique constellation of congenital anomalies including QAV, SCA, solitary kidney and Tessier type 3 oblique facial cleft with cleft palate. To our knowledge, this unique combination has never been described previously. We describe his case and review the topic of QAV and its reported cardiac and systemic associations.