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Curr Atheroscler Rep. 2012 Jun;14(3):219-26. doi: 10.1007/s11883-012-0241-4.

Genetics of thoracic aortic aneurysms.

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  • 1AP-HP, Centre de Référence National pour le syndrome de Marfan et apparentés, Hôpital Bichat, Paris, France.


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 FBN1, mutations have been reported in TGFBR1, TGFBR2, ACTA2, MYH11, and SMAD3. 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.

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