{"title":"年轻男性肌球蛋白重链11基因变异不确定意义的三期广泛主动脉置换。","authors":"Federico Pascucci, Tommaso Donati, Albino Vallabini, Mauro Cassese, Yamume Tshomba","doi":"10.1177/17085381251359315","DOIUrl":null,"url":null,"abstract":"<p><p>BackgroundNon-syndromic hereditary aortic diseases are caused by mutations in genes encoding for connective tissue components, involving structural integrity of aortic tissue. Amongst them, MYH11 gene mutation is a known causative factor for aortic diseases, especially in young patients.Research DesignWe report the case of a 37 years-old male which came to our attention for an acute DeBakey type I aortic dissection. In three different operations he was submitted to a total aortic substitution with a Bentall operation, a Frozen Elephant Trunk and a Thoracoabdominal Aortic open repair. During the last two operations particular technical tips, which are reported in this work, have been adopted to optimize surgical strategy.</p>","PeriodicalId":23549,"journal":{"name":"Vascular","volume":" ","pages":"17085381251359315"},"PeriodicalIF":0.9000,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Three-stage extensive aortic substitution in a young man with a variant of uncertain significance in myosin heavy chain 11 gene.\",\"authors\":\"Federico Pascucci, Tommaso Donati, Albino Vallabini, Mauro Cassese, Yamume Tshomba\",\"doi\":\"10.1177/17085381251359315\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>BackgroundNon-syndromic hereditary aortic diseases are caused by mutations in genes encoding for connective tissue components, involving structural integrity of aortic tissue. Amongst them, MYH11 gene mutation is a known causative factor for aortic diseases, especially in young patients.Research DesignWe report the case of a 37 years-old male which came to our attention for an acute DeBakey type I aortic dissection. In three different operations he was submitted to a total aortic substitution with a Bentall operation, a Frozen Elephant Trunk and a Thoracoabdominal Aortic open repair. During the last two operations particular technical tips, which are reported in this work, have been adopted to optimize surgical strategy.</p>\",\"PeriodicalId\":23549,\"journal\":{\"name\":\"Vascular\",\"volume\":\" \",\"pages\":\"17085381251359315\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2025-08-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Vascular\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1177/17085381251359315\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PERIPHERAL VASCULAR DISEASE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Vascular","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/17085381251359315","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PERIPHERAL VASCULAR DISEASE","Score":null,"Total":0}
Three-stage extensive aortic substitution in a young man with a variant of uncertain significance in myosin heavy chain 11 gene.
BackgroundNon-syndromic hereditary aortic diseases are caused by mutations in genes encoding for connective tissue components, involving structural integrity of aortic tissue. Amongst them, MYH11 gene mutation is a known causative factor for aortic diseases, especially in young patients.Research DesignWe report the case of a 37 years-old male which came to our attention for an acute DeBakey type I aortic dissection. In three different operations he was submitted to a total aortic substitution with a Bentall operation, a Frozen Elephant Trunk and a Thoracoabdominal Aortic open repair. During the last two operations particular technical tips, which are reported in this work, have been adopted to optimize surgical strategy.
期刊介绍:
Vascular provides readers with new and unusual up-to-date articles and case reports focusing on vascular and endovascular topics. It is a highly international forum for the discussion and debate of all aspects of this distinct surgical specialty. It also features opinion pieces, literature reviews and controversial issues presented from various points of view.