M. D. F. Leite, C. Muñíz, C. Farias, D. Orofino, Daltro Castellar Junior, A. Barth
{"title":"马凡氏综合征:家族史的重要性——病例报告","authors":"M. D. F. Leite, C. Muñíz, C. Farias, D. Orofino, Daltro Castellar Junior, A. Barth","doi":"10.25060/residpediatr-2023.v13n2-550","DOIUrl":null,"url":null,"abstract":"We describe a case of Marfan syndrome, referred for evaluation due to an important family history of sudden death. In the first evaluation, he presented dilation of the aortic root in addition to other clinical manifestations of the disease. Our objective is to emphasize the importance of family history as a starting point in Marfan syndrome investigation, in an effort to prevent unfavorable outcomes like aortic dissection and sudden death.","PeriodicalId":338092,"journal":{"name":"Residência Pediátrica","volume":"28 2","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Marfan syndrome: importance of family history - case report\",\"authors\":\"M. D. F. Leite, C. Muñíz, C. Farias, D. Orofino, Daltro Castellar Junior, A. Barth\",\"doi\":\"10.25060/residpediatr-2023.v13n2-550\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We describe a case of Marfan syndrome, referred for evaluation due to an important family history of sudden death. In the first evaluation, he presented dilation of the aortic root in addition to other clinical manifestations of the disease. Our objective is to emphasize the importance of family history as a starting point in Marfan syndrome investigation, in an effort to prevent unfavorable outcomes like aortic dissection and sudden death.\",\"PeriodicalId\":338092,\"journal\":{\"name\":\"Residência Pediátrica\",\"volume\":\"28 2\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1900-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Residência Pediátrica\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.25060/residpediatr-2023.v13n2-550\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Residência Pediátrica","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25060/residpediatr-2023.v13n2-550","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Marfan syndrome: importance of family history - case report
We describe a case of Marfan syndrome, referred for evaluation due to an important family history of sudden death. In the first evaluation, he presented dilation of the aortic root in addition to other clinical manifestations of the disease. Our objective is to emphasize the importance of family history as a starting point in Marfan syndrome investigation, in an effort to prevent unfavorable outcomes like aortic dissection and sudden death.