Cristiane Ferreira de Araújo-Gomes, Carlos Eduardo Virgini-Magalhães, Leonardo Silveira de Castro, Eduardo Rodrigues, Alex Antunes Bezerra, Monica Rochedo Mayall, Cristina Ribeiro Riguetti-Pinto, Felipe Borges Fagundes
{"title":"Pulmonary arteriovenous malformations in Rendu-Osler-Weber syndrome","authors":"Cristiane Ferreira de Araújo-Gomes, Carlos Eduardo Virgini-Magalhães, Leonardo Silveira de Castro, Eduardo Rodrigues, Alex Antunes Bezerra, Monica Rochedo Mayall, Cristina Ribeiro Riguetti-Pinto, Felipe Borges Fagundes","doi":"10.1590/1677-5449.202301332","DOIUrl":null,"url":null,"abstract":"Abstract Rendu-Osler-Weber syndrome, also known as hereditary hemorrhagic telangiectasia, is an autosomal dominant hereditary disorder. It is characterized by presence of multiple arteriovenous malformations (AVMs) and telangiectasias. This article reports two cases of patients with Rendu-Osler-Weber syndrome who had pulmonary AVMs and underwent successful endovascular treatment. A brief review of the literature shows that up to 50% of patients with the syndrome have pulmonary AVMs and there is usually a positive family history in these patients. These pulmonary AVMs are multiple in 30% of cases and are associated with the most severe disease complications. Most patients are asymptomatic, even in the presence of AVMs with right-left shunts. When these shunts exceed 25% of the total blood volume, dyspnea, cyanosis, digital clubbing, and extracardiac murmurs may occur. Endovascular treatment is safe and offers control of complications from hereditary hemorrhagic telangiectasia and is currently the treatment of choice for these lesions.","PeriodicalId":14814,"journal":{"name":"Jornal Vascular Brasileiro","volume":null,"pages":null},"PeriodicalIF":0.8000,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Jornal Vascular Brasileiro","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1590/1677-5449.202301332","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PERIPHERAL VASCULAR DISEASE","Score":null,"Total":0}
引用次数: 0
Abstract
Abstract Rendu-Osler-Weber syndrome, also known as hereditary hemorrhagic telangiectasia, is an autosomal dominant hereditary disorder. It is characterized by presence of multiple arteriovenous malformations (AVMs) and telangiectasias. This article reports two cases of patients with Rendu-Osler-Weber syndrome who had pulmonary AVMs and underwent successful endovascular treatment. A brief review of the literature shows that up to 50% of patients with the syndrome have pulmonary AVMs and there is usually a positive family history in these patients. These pulmonary AVMs are multiple in 30% of cases and are associated with the most severe disease complications. Most patients are asymptomatic, even in the presence of AVMs with right-left shunts. When these shunts exceed 25% of the total blood volume, dyspnea, cyanosis, digital clubbing, and extracardiac murmurs may occur. Endovascular treatment is safe and offers control of complications from hereditary hemorrhagic telangiectasia and is currently the treatment of choice for these lesions.
期刊介绍:
The Jornal Vascular Brasileiro is editated and published quaterly to select and disseminate high-quality scientific contents concerning original research, novel surgical and diagnostic techniques, and clinical observations in the field of vascular surgery, angiology, and endovascular surgery. Its abbreviated title is J. Vasc. Bras., which should be used in bibliographies, footnotes and bibliographical references and strips.