Genetic Diseases of the Aorta (Including Aneurysms)

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations


An aortic dissection or rupture, secondary to an aortic aneurysm, is a major medical emergency and an important source of morbidity and mortality. Aortic dissections are the outcome of a number of genetic and non-genetic-mediated insults to the aorta wall which cause its weakening. Multiple histopathologic findings are associated with aortic disease but are not generally specific to any one syndrome. This chapter will take a step-wise approach to describe the normal aorta and the diseased aorta at both the gross and histologic levels. It will then discuss the important genetic and non-genetic causes of aortic aneurysms and dissections. It will cover the role of the transforming growth factor beta (TGFβ) signaling pathway in vascular smooth muscle cells in both the ascending and abdominal aortas as a shared pathway of aortic disease. Finally, it will conclude with current therapies and future directions for research.

Original languageEnglish (US)
Title of host publicationCellular and Molecular Pathobiology of Cardiovascular Disease
PublisherElsevier Inc.
Number of pages17
ISBN (Print)9780124052062
StatePublished - Jan 2014


  • Aortic aneurysm
  • Aortic dissection
  • Aortopathy
  • Loeys-Dietz syndrome
  • Marfan syndrome
  • Medial degeneration
  • Transforming growth factor beta

ASJC Scopus subject areas

  • Dentistry(all)
  • Medicine(all)


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