Genetics of Thoracic Aortic Aneurysms

被引：33

作者：

Jondeau, Guillaume ^{[1
,2
,3
]}

Boileau, Catherine ^{[1
,2
,4
]}

机构：

[1] Hop Bichat Claude Bernard, AP HP, Ctr Reference Natl Syndrome Marfan & Apparentes, F-75018 Paris, France

[2] Hop Bichat Claude Bernard, INSERM, U698, F-75018 Paris, France

[3] Hop Bichat Claude Bernard, AP HP, Serv Cardiol, F-75018 Paris, France

[4] Hop Ambroise Pare, AP HP, Lab Cent Biochim Hormonol & Genet Mol, F-92100 Boulogne, France

来源：

CURRENT ATHEROSCLEROSIS REPORTS | 2012年 / 14卷 / 03期

关键词：

Marfan syndrome; Aorta; Thoracic aortic aneurysm; Loeys dietz; Genetics; LOEYS-DIETZ SYNDROME; MARFAN-SYNDROME; CONNECTIVE-TISSUE; MUTATIONS; VALVE; DISSECTIONS; TGFBR2; FBN1; ASSOCIATION; NOSOLOGY;

D O I：

10.1007/s11883-012-0241-4

中图分类号：

R6 [外科学];

学科分类号：

1002 ; 100210 ;

摘要：

Understanding of the genetics of thoracic aortic aneurysm is increasing rapidly, due to discovery of novel genes, better definition of the phenotypes associated with mutations in a given gene and better understanding of the pathophysiology. Beyond Marfan syndrome, usually related to mutation in , mutations have been reported in , and . All are transmitted as dominant autosomal traits. The importance of genetics in patients with bicuspid aortic valve and non-syndromic thoracic aortic aneurysm is also increasingly recognized. The following is a review of the phenotypes associated with the different mutations and the clinical consequences of this recent information.

引用

页码：219 / 226

页数：8

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