{"title":"马凡氏综合征伴FBN1新基因突变患者超声心动图随访13年","authors":"Xu Jianping, Cui, MS Faping, D. Shuixiu, O. Jiafu","doi":"10.37015/audt.2021.200070","DOIUrl":null,"url":null,"abstract":": A case of Marfan syndrome was followed up by echocardiography for 13 years to observe the evolution of cardiovascular disease. The initial cardiovascular manifestations of this patient were \"mitral myxoid degeneration, chordal rupture, leaflet prolapse, and massive regurgitation\". Subsequently, after several years of development, the aortic sinus and ascending aortic aneurysm dilatation appeared and a new gene mutation site G4331A of FBN1 was found by genetic testing in this patient. Whether the new gene mutation site is related to the initial manifestation of the patient's cardiovascular disease with \"mitral valve disease\" remains to be further verified.","PeriodicalId":53404,"journal":{"name":"Advanced Ultrasound in Diagnosis and Therapy","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Echocardiography of Marfan's Syndrome Patient with New Gene Mutation of FBN1 with 13-year Follow-up\",\"authors\":\"Xu Jianping, Cui, MS Faping, D. Shuixiu, O. Jiafu\",\"doi\":\"10.37015/audt.2021.200070\",\"DOIUrl\":null,\"url\":null,\"abstract\":\": A case of Marfan syndrome was followed up by echocardiography for 13 years to observe the evolution of cardiovascular disease. The initial cardiovascular manifestations of this patient were \\\"mitral myxoid degeneration, chordal rupture, leaflet prolapse, and massive regurgitation\\\". Subsequently, after several years of development, the aortic sinus and ascending aortic aneurysm dilatation appeared and a new gene mutation site G4331A of FBN1 was found by genetic testing in this patient. Whether the new gene mutation site is related to the initial manifestation of the patient's cardiovascular disease with \\\"mitral valve disease\\\" remains to be further verified.\",\"PeriodicalId\":53404,\"journal\":{\"name\":\"Advanced Ultrasound in Diagnosis and Therapy\",\"volume\":\"1 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Advanced Ultrasound in Diagnosis and Therapy\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.37015/audt.2021.200070\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Health Professions\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Advanced Ultrasound in Diagnosis and Therapy","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.37015/audt.2021.200070","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Health Professions","Score":null,"Total":0}
Echocardiography of Marfan's Syndrome Patient with New Gene Mutation of FBN1 with 13-year Follow-up
: A case of Marfan syndrome was followed up by echocardiography for 13 years to observe the evolution of cardiovascular disease. The initial cardiovascular manifestations of this patient were "mitral myxoid degeneration, chordal rupture, leaflet prolapse, and massive regurgitation". Subsequently, after several years of development, the aortic sinus and ascending aortic aneurysm dilatation appeared and a new gene mutation site G4331A of FBN1 was found by genetic testing in this patient. Whether the new gene mutation site is related to the initial manifestation of the patient's cardiovascular disease with "mitral valve disease" remains to be further verified.