The role of genetic testing in Marfan syndrome

被引：4

作者：

Monda, Emanuele ^{[1
]}

Caiazza, Martina ^{[1
]}

Limongelli, Giuseppe ^{[1
,2
,3
]}

机构：

[1] Univ Campania Luigi Vanvitelli, Monaldi Hosp, Dept Translat Med Sci, Inherited & Rare Cardiovasc Dis, Naples, Italy

[2] UCL, Inst Cardiovasc Sci, London, England

[3] Univ CampaniaLuigi Vanvitelli, Monaldi Hosp, Dept Translat Med Sci, Inherited & Rare Cardiovasc Dis Clin,AORN Colli, Via LBianchi 1c, Naples, Italy

来源：

CURRENT OPINION IN CARDIOLOGY | 2024年 / 39卷 / 03期

关键词：

aortic dilatation; genetic testing; Marfan syndrome; THORACIC AORTIC DISEASE; EHLERS-DANLOS-SYNDROME; CARDIOLOGY; EVENTS;

D O I：

10.1097/HCO.0000000000001126

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Purpose of reviewThis 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 findingsThe 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.SummaryGenetic testing is essential in different steps of the MFS patients' clinical pathway, starting from the phase of diagnosis to management and specific treatment.

引用

页码：162 / 169

页数：8

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