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Genetic Thoracic Aortic Diseases

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Adult Congenital Heart Disease in Clinical Practice

Part of the book series: In Clinical Practice ((ICP))

Abstract

Anatomy

  • A thoracic aortic aneurysm is a dilation of the aortic root (10%), ascending aorta (50%), aortic arch (10%), or descending aorta (40%).

  • The normal diameter of the aorta increases with age and body surface area. Men have larger aortas than women. The normal diameter cutoffs are shown in Fig. 30.1 [2].

Physiology

  • Thoracic aortic aneurysms occur primarily due to medial degeneration of the aortic wall.

  • Medial degeneration is characterized by loss of elastic fibers, apoptosis and dysfunction of smooth muscle fibers, increase in collagen production, and degradation of the extracellular matrix. As a result, the aortic wall becomes weak and dilates.

  • Aortic dissection occurs when the medial layer is disrupted with intramural hemorrhage that propagates and tracks within the media creating two lumens.

  • Although aortic rupture does occur, most clinical manifestations of aortic dissection are the consequence of arterial obstruction caused by false lumen propagation.

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Abbreviations

BAV:

Bicuspid aortic valve

FTAAD:

Familial thoracic aortic aneurysm or dissection

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Author information

Authors and Affiliations

  1. Division of Cardiology, Massachusetts General Hospital, Boston, MA, USA

    Akl C. Fahed M.D., M.P.H.

Authors
  1. Akl C. Fahed M.D., M.P.H.
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Correspondence to Akl C. Fahed M.D., M.P.H. .

Editor information

Editors and Affiliations

  1. Massachusetts General Hospital Heart Center, Boston, MA, USA

    Doreen DeFaria Yeh

  2. Massachusetts General Hospital Heart Center, Boston, MA, USA

    Ami Bhatt

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Fahed, A.C. (2018). Genetic Thoracic Aortic Diseases. In: DeFaria Yeh, D., Bhatt, A. (eds) Adult Congenital Heart Disease in Clinical Practice. In Clinical Practice. Springer, Cham. https://doi.org/10.1007/978-3-319-67420-9_30

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  • DOI: https://doi.org/10.1007/978-3-319-67420-9_30

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-67418-6

  • Online ISBN: 978-3-319-67420-9

  • eBook Packages: MedicineMedicine (R0)

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