Causes and histopathology of ascending aortic disease in children and young adults

Deepali Jain, Harry C. Dietz, Gretchen L. Oswald, Joseph J. Maleszewski, Marc K. Halushka

Research output: Contribution to journalReview articlepeer-review

57 Scopus citations


Background: Ascending aortic diseases (aneurysms, dissections, and stenosis) and associated aortic valve disease are rare but important causes of morbidity and mortality in children and young adults. Certain genetic causes, such as Marfan syndrome and congenital bicuspid aortic valve disease, are well known. However, other rarer genetic and nongenetic causes of aortic disease exist. Methods: We performed an extensive literature search to identify known causes of ascending aortic pathology in children and young adults. We catalogued both aortic pathologies and other defining systemic features of these diseases. Results: We describe 17 predominantly genetic entities that have been associated with thoracic aortic disease in this age group. Conclusions: While extensive literature on the common causes of ascending aortic disease exists, there is a need for better histologic documentation of aortic pathology in rarer diseases.

Original languageEnglish (US)
Pages (from-to)15-25
Number of pages11
JournalCardiovascular Pathology
Issue number1
StatePublished - Jan 2011


  • Aortic aneurysm
  • Dissection
  • Genetic

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Cardiology and Cardiovascular Medicine


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