Emanuele Monda, Martina Caiazza, Giuseppe Limongelli
{"title":"基因检测在马凡氏综合征中的作用。","authors":"Emanuele Monda, Martina Caiazza, Giuseppe Limongelli","doi":"10.1097/HCO.0000000000001126","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose of review: </strong>This review aims to delineate the genetic basis of Marfan syndrome (MFS) and underscore the pivotal role of genetic testing in the diagnosis, differential diagnosis, genotype-phenotype correlations, and overall disease management.</p><p><strong>Recent findings: </strong>The identification of pathogenic or likely pathogenic variants in the FBN1 gene, associated with specific clinical features such as aortic root dilatation or ectopia lentis, is a major diagnostic criterion for MFS. Understanding genotype-phenotype correlations is useful for determining the timing of follow-up, guiding prophylactic aortic root surgery, and providing more precise information to patients and their family members during genetic counseling. Genetic testing is also relevant in distinguishing MFS from other conditions that present with heritable thoracic aortic diseases, allowing for tailored and individualized management.</p><p><strong>Summary: </strong>Genetic testing is essential in different steps of the MFS patients' clinical pathway, starting from the phase of diagnosis to management and specific treatment.</p>","PeriodicalId":55197,"journal":{"name":"Current Opinion in Cardiology","volume":" ","pages":"162-169"},"PeriodicalIF":2.0000,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The role of genetic testing in Marfan syndrome.\",\"authors\":\"Emanuele Monda, Martina Caiazza, Giuseppe Limongelli\",\"doi\":\"10.1097/HCO.0000000000001126\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose of review: </strong>This review aims to delineate the genetic basis of Marfan syndrome (MFS) and underscore the pivotal role of genetic testing in the diagnosis, differential diagnosis, genotype-phenotype correlations, and overall disease management.</p><p><strong>Recent findings: </strong>The identification of pathogenic or likely pathogenic variants in the FBN1 gene, associated with specific clinical features such as aortic root dilatation or ectopia lentis, is a major diagnostic criterion for MFS. Understanding genotype-phenotype correlations is useful for determining the timing of follow-up, guiding prophylactic aortic root surgery, and providing more precise information to patients and their family members during genetic counseling. Genetic testing is also relevant in distinguishing MFS from other conditions that present with heritable thoracic aortic diseases, allowing for tailored and individualized management.</p><p><strong>Summary: </strong>Genetic testing is essential in different steps of the MFS patients' clinical pathway, starting from the phase of diagnosis to management and specific treatment.</p>\",\"PeriodicalId\":55197,\"journal\":{\"name\":\"Current Opinion in Cardiology\",\"volume\":\" \",\"pages\":\"162-169\"},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2024-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current Opinion in Cardiology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/HCO.0000000000001126\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/2/21 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Opinion in Cardiology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/HCO.0000000000001126","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/2/21 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
Purpose of review: This review aims to delineate the genetic basis of Marfan syndrome (MFS) and underscore the pivotal role of genetic testing in the diagnosis, differential diagnosis, genotype-phenotype correlations, and overall disease management.
Recent findings: The identification of pathogenic or likely pathogenic variants in the FBN1 gene, associated with specific clinical features such as aortic root dilatation or ectopia lentis, is a major diagnostic criterion for MFS. Understanding genotype-phenotype correlations is useful for determining the timing of follow-up, guiding prophylactic aortic root surgery, and providing more precise information to patients and their family members during genetic counseling. Genetic testing is also relevant in distinguishing MFS from other conditions that present with heritable thoracic aortic diseases, allowing for tailored and individualized management.
Summary: Genetic testing is essential in different steps of the MFS patients' clinical pathway, starting from the phase of diagnosis to management and specific treatment.
期刊介绍:
Current Opinion in Cardiology is a bimonthly publication offering a unique and wide ranging perspective on the key developments in the field. Each issue features hand-picked review articles from our team of expert editors. With fourteen disciplines published across the year – including arrhythmias, molecular genetics, HDL cholesterol and clinical trials – every issue also contains annotated reference detailing the merits of the most important papers.