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. 2013 May;2(3):271-9.
doi: 10.3978/j.issn.2225-319X.2013.05.12.

The genetics and genomics of thoracic aortic disease

Pawel Pomianowski  1 , John A Elefteriades
Affiliations

The genetics and genomics of thoracic aortic disease

Pawel Pomianowski et al. Ann Cardiothorac Surg. 2013 May.

Abstract

Genetic studies over the past several decades have helped to better elucidate the genomics and inheritance of thoracic aortic diseases. Seminal work from various researchers have identified several genetic factors and mutations that predispose to aortic aneurysms, which will aid in better screening and early intervention, resulting in better clinical outcomes. Syndromic aneurysms have been associated with Marfan syndrome, Loeys-Dietz syndrome, aneurysm osteoarthritis syndrome, arterial tortuosity syndrome, Ehlers-Danlos Syndrome, and TGFβ mutation. Mutations in MYH11, TGFβR1, TGFβR2, MYLK, and ACTA2 genes have been linked to familial non-syndromic cases, although linkage analysis is limited by incomplete penetrance and/or locus heterogeneity. This overview presents a summary of key genetic and genomic factors that are associated with thoracic aortic diseases.

Keywords: Aortic disease; genetics; non-syndromic aortic aneurysm; syndromic aortic aneurysm.

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Figures

Figure 1
Figure 1
Non-syndromic familial thoracic aortic aneurysms and dissections. ECM, extracellular matrix
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The genetics and genomics of thoracic aortic disease
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