Genetics of aortic diseases
Use of genetics for personalized management of heritable thoracic aortic disease: How do we get there?

Read at The American Association for Thoracic Surgery Aortic Symposium, New York, New York, April 24-25, 2014.
https://doi.org/10.1016/j.jtcvs.2014.07.070Get rights and content
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The major diseases affecting the thoracic aorta are aortic aneurysms and acute aortic dissections. Medical treatments can slow the enlargement of aneurysms, but the mainstay of treatment to prevent premature death resulting from dissection is surgical repair of the thoracic aortic aneurysm, which is typically recommended when the aortic diameter reaches 5.0 to 5.5 cm. Studies of patients with acute aortic dissections, however, indicate that as many as 60% of dissections occur at aortic diameters smaller than 5.5 cm. Clinical predictors are therefore needed to distinguish those at risk for dissection at an aortic diameter smaller than 5.0 cm and to determine the aortic diameter that justifies the risk of surgical repair to prevent an acute aortic dissection. Data from genetic studies during the past decade have established that mutations in specific genes can distinguish patients at risk for the disease and predict the risk of early dissection at diameters smaller than 5.0 cm. This information has the potential to optimize the timing of aortic surgery to prevent acute dissections.

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Abbreviations and Acronyms

FTAAD
familial thoracic acute aortic dissection
LDS
Loeys-Dietz syndrome
MFS
Marfan syndrome
SMC
smooth muscle cell
TAA
ascending thoracic aortic aneurysm
TAAD
thoracic aortic aneurysm and thoracic acute aortic dissection

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Work in the laboratory of D.M.M. is funded by the National Institutes of Health (grants RO1 HL62594 and P50HL083794-01), the John Ritter Research Program, the National Marfan Foundation, the Ehlers Danlos Syndrome Network, the Richard T. Pasini Funds, and the Vivian L. Smith Foundation.

Disclosures: Authors have nothing to disclose with regard to commercial support.