Fortunate Mamombe, Catherine E Renwick, A. Potterton, Elizabeth Wilson, C. Romer, Rachana Kalathiparambil, Anita Banerjee, Rosalie Magboo
{"title":"遗传性主动脉病变:综述","authors":"Fortunate Mamombe, Catherine E Renwick, A. Potterton, Elizabeth Wilson, C. Romer, Rachana Kalathiparambil, Anita Banerjee, Rosalie Magboo","doi":"10.12968/bjca.2023.0014","DOIUrl":null,"url":null,"abstract":"This article is the fourth instalment of a wider series looking at cardiac genetic concepts. Inherited aortopathies are a group of syndromic and non-syndromic genetic conditions that affect the aorta. Aortopathies can lead to sudden cardiac death through aortic aneurysm rupture, especially in individuals whose aortopathy is undiagnosed. Most inherited aortopathies follow an autosomal dominant inheritance pattern and high-quality family history taking is paramount in assessing this. This article focuses on thoracic aortic aneurysm and provides an overview of the aetiology, diagnosis and management, including risk stratification and treatment.","PeriodicalId":72463,"journal":{"name":"British journal of cardiac nursing","volume":"25 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"Inherited aortopathy: an overview\",\"authors\":\"Fortunate Mamombe, Catherine E Renwick, A. Potterton, Elizabeth Wilson, C. Romer, Rachana Kalathiparambil, Anita Banerjee, Rosalie Magboo\",\"doi\":\"10.12968/bjca.2023.0014\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"This article is the fourth instalment of a wider series looking at cardiac genetic concepts. Inherited aortopathies are a group of syndromic and non-syndromic genetic conditions that affect the aorta. Aortopathies can lead to sudden cardiac death through aortic aneurysm rupture, especially in individuals whose aortopathy is undiagnosed. Most inherited aortopathies follow an autosomal dominant inheritance pattern and high-quality family history taking is paramount in assessing this. This article focuses on thoracic aortic aneurysm and provides an overview of the aetiology, diagnosis and management, including risk stratification and treatment.\",\"PeriodicalId\":72463,\"journal\":{\"name\":\"British journal of cardiac nursing\",\"volume\":\"25 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-05-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"British journal of cardiac nursing\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.12968/bjca.2023.0014\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"British journal of cardiac nursing","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.12968/bjca.2023.0014","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
This article is the fourth instalment of a wider series looking at cardiac genetic concepts. Inherited aortopathies are a group of syndromic and non-syndromic genetic conditions that affect the aorta. Aortopathies can lead to sudden cardiac death through aortic aneurysm rupture, especially in individuals whose aortopathy is undiagnosed. Most inherited aortopathies follow an autosomal dominant inheritance pattern and high-quality family history taking is paramount in assessing this. This article focuses on thoracic aortic aneurysm and provides an overview of the aetiology, diagnosis and management, including risk stratification and treatment.