The role of genetic testing in Marfan syndrome.

IF 2 4区 医学 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS
Current Opinion in Cardiology Pub Date : 2024-05-01 Epub Date: 2024-02-21 DOI:10.1097/HCO.0000000000001126
Emanuele Monda, Martina Caiazza, Giuseppe Limongelli
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引用次数: 0

Abstract

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.

基因检测在马凡氏综合征中的作用。
综述的目的:本综述旨在阐明马凡综合征(MFS)的遗传基础,并强调基因检测在诊断、鉴别诊断、基因型-表型相关性和整体疾病管理中的关键作用:最近的研究结果:FBN1 基因中致病或可能致病变体的鉴定与主动脉根部扩张或大叶外翻等特定临床特征相关,是 MFS 的主要诊断标准。了解基因型与表型的相关性有助于确定随访时机、指导主动脉根部预防性手术以及在遗传咨询中为患者及其家属提供更准确的信息。基因检测还有助于将 MFS 与其他表现为遗传性胸主动脉疾病的疾病区分开来,从而进行有针对性的个体化治疗。摘要:基因检测在 MFS 患者临床路径的不同步骤中至关重要,从诊断阶段开始,到管理和具体治疗。
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来源期刊
Current Opinion in Cardiology
Current Opinion in Cardiology 医学-心血管系统
CiteScore
4.20
自引率
4.30%
发文量
78
审稿时长
6-12 weeks
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.
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