{"title":"基因诊断如何决定何时进行手术?","authors":"Maral Ouzounian, Scott A LeMaire","doi":"10.21037/jovs.2018.03.08","DOIUrl":null,"url":null,"abstract":"<p><p>Genetic discovery for heritable thoracic aortic disease (HTAD) has been progressing at a brisk pace. Surgical management of thoracic aortic aneurysms and dissections has become more personalized, with genetic factors increasingly informing the decision of when to operate on patients. An improved understanding of genotype-phenotype correlations in patients with HTAD will ultimately lead to gene- and mutation-specific recommendations for surgical repair. Until more robust data from larger cohorts can inform our decisions, patients with HTAD should be seen by an aortic specialist for a tailored approach to elective surgical repair.</p>","PeriodicalId":17587,"journal":{"name":"Journal of visualized surgery","volume":"4 ","pages":"68"},"PeriodicalIF":0.0000,"publicationDate":"2018-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.21037/jovs.2018.03.08","citationCount":"7","resultStr":"{\"title\":\"How can genetic diagnosis inform the decision of when to operate?\",\"authors\":\"Maral Ouzounian, Scott A LeMaire\",\"doi\":\"10.21037/jovs.2018.03.08\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Genetic discovery for heritable thoracic aortic disease (HTAD) has been progressing at a brisk pace. Surgical management of thoracic aortic aneurysms and dissections has become more personalized, with genetic factors increasingly informing the decision of when to operate on patients. An improved understanding of genotype-phenotype correlations in patients with HTAD will ultimately lead to gene- and mutation-specific recommendations for surgical repair. Until more robust data from larger cohorts can inform our decisions, patients with HTAD should be seen by an aortic specialist for a tailored approach to elective surgical repair.</p>\",\"PeriodicalId\":17587,\"journal\":{\"name\":\"Journal of visualized surgery\",\"volume\":\"4 \",\"pages\":\"68\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-04-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.21037/jovs.2018.03.08\",\"citationCount\":\"7\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of visualized surgery\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.21037/jovs.2018.03.08\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2018/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of visualized surgery","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.21037/jovs.2018.03.08","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2018/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
How can genetic diagnosis inform the decision of when to operate?
Genetic discovery for heritable thoracic aortic disease (HTAD) has been progressing at a brisk pace. Surgical management of thoracic aortic aneurysms and dissections has become more personalized, with genetic factors increasingly informing the decision of when to operate on patients. An improved understanding of genotype-phenotype correlations in patients with HTAD will ultimately lead to gene- and mutation-specific recommendations for surgical repair. Until more robust data from larger cohorts can inform our decisions, patients with HTAD should be seen by an aortic specialist for a tailored approach to elective surgical repair.