Arterial tortuosity in genetic arteriopathies

Curr Opin Cardiol. 2015 Nov;30(6):587-93. doi: 10.1097/HCO.0000000000000218.


Purpose of review: Arterial tortuosity is emerging as a common feature in genetically mediated thoracic aortic disease that may be prognostic. This review will summarize recent literature on arterial tortuosity in the setting of genetic arteriopathies.

Recent findings: Although arterial tortuosity has been primarily described in Loeys-Dietz syndrome due to TGFBR1 and TGFBR2 mutations and in arterial tortuosity syndrome due to SLC210A mutations, recent studies that use quantitative measures of tortuosity suggest that tortuosity is present in many other genetic conditions associated with aortic dilation and dissection. The mechanisms of the development of tortuosity in these disorders are not fully understood, but are founded in the concept that there is abnormal, pathologic arterial lengthening in a fixed space, resulting in more tortuous vessels. Further studies suggest that patients with increased arterial tortuosity are at increased risk of adverse cardiovascular events, including aortic surgery, aortic dissection, and death.

Summary: Arterial tortuosity is commonly present in genetically mediated aortic disease. Given the suboptimal performance of aortic dimension alone in predicting aortic dissection, quantification of tortuosity may augment the current algorithms for determining risk in patients with aortic disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Arteries / abnormalities*
  • DNA / genetics*
  • DNA Mutational Analysis
  • Humans
  • Joint Instability / genetics*
  • Loeys-Dietz Syndrome / genetics*
  • Mutation*
  • Protein Serine-Threonine Kinases / genetics*
  • Receptor, Transforming Growth Factor-beta Type I
  • Receptor, Transforming Growth Factor-beta Type II
  • Receptors, Transforming Growth Factor beta / genetics*
  • Skin Diseases, Genetic / genetics*
  • Vascular Malformations / genetics*


  • Receptors, Transforming Growth Factor beta
  • DNA
  • Protein Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type I
  • Receptor, Transforming Growth Factor-beta Type II
  • TGFBR1 protein, human

Supplementary concepts

  • Arterial Tortuosity Syndrome