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Genetic aspects of thoracic ascending aortic aneurysm and dissection (TAAD) 

Genetic aspects of thoracic ascending aortic aneurysm and dissection (TAAD)
Genetic aspects of thoracic ascending aortic aneurysm and dissection (TAAD)

Anne H. Child

, Jose Aragon-Martin

, and Y. B. Alexander Wan

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date: 05 July 2020

This chapter describes the genetic defects associated with the common syndromic conditions associated with thoracic aortic aneurysm (TAA) and concentrates primarily on management of the ascending aorta. There is no medical treatment specific for the aorta; however, beta-blocker therapy reduces haemodynamic stress on the aorta. Prophylactic surgical intervention on the ascending aorta is indicated when the rate of dilation is greater than 0.5cm per year. The prognosis is dependent on the family history and the causative gene. Surgical intervention on the ascending aorta at smaller diameters is required for mutations in TGFBR1 and TGFBR2, MYH11, or ACTA2 since these genes cause dissection at diameters less than 5 cm. The majority of data relating to surgical intervention relate to repair of the ascending aorta. In recent years more attention has been given to aneurysms affecting the descending thoracic aorta and certain principles may be extrapolated between the two anatomical locations.

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