Lessons on the pathogenesis of aneurysm from heritable conditions

Mark E. Lindsay, Harry C. Dietz

Research output: Contribution to journalReview articlepeer-review

306 Scopus citations


Aortic aneurysm is common, accounting for 1-2% of all deaths in industrialized countries. Early theories of the causes of human aneurysm mostly focused on inherited or acquired defects in components of the extracellular matrix in the aorta. Although several mutations in the genes encoding extracellular matrix proteins have been recognized, more recent discoveries have shown important perturbations in cytokine signalling cascades and intracellular components of the smooth muscle contractile apparatus. The modelling of single-gene heritable aneurysm disorders in mice has shown unexpected involvement of the transforming growth factor-Î 2 cytokine pathway in aortic aneurysm, highlighting the potential for new therapeutic strategies.

Original languageEnglish (US)
Pages (from-to)308-316
Number of pages9
Issue number7347
StatePublished - May 19 2011

ASJC Scopus subject areas

  • General


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