Increased visceral arterial tortuosity in Marfan syndrome

Orphanet J Rare Dis. 2020 Apr 15;15(1):91. doi: 10.1186/s13023-020-01369-w.


Background: Clinical evidence suggests that the currently recommended approach to estimate the risk of aortic dissection in Marfan syndrome (MFS) is not reliable enough. Therefore, we investigated the possible role of visceral arterial tortuosity in the risk stratification.

Methods and results: Splenic and renal arteries of 37 MFS patients and 74 age and gender matched control subjects were segmented using CT angiography imaging. To measure tortuosity, distance metric (DM), sum of angles metric (SOAM), inflection count metric (ICM), and the ratio of ICM and SOAM (ICM/SOAM) were calculated. DM of the splenic, right and left renal artery was significantly higher in MFS patients than in controls (2.44 [1.92-2.80] vs. 1.75 [1.57-2.18] p < 0.001; 1.16 [1.10-1.28] vs. 1.11 [1.07-1.15] p = 0.011; 1.40 [1.29-1.70] vs. 1.13 [1.09-1.23] p < 0.001, respectively). A similar tendency for ICM and an opposite tendency for SOAM were observed. ICM/SOAM was significantly higher in the MFS group compared to controls in case of all three arteries (73.35 [62.26-93.63] vs. 50.91 [43.19-65.62] p < 0.001; 26.52 [20.69-30.24] vs. 19.95 [16.47-22.95] p < 0.001; 22.81 [18.64-30.96] vs. 18.38 [15.29-21.46] p < 0.001, respectively). MFS patients who underwent aortic root replacement had increased right and left renal DM and ICM/SOAM compared to MFS patients without surgery.

Conclusion: To our knowledge this is the first demonstration of increased arterial tortuosity in MFS on visceral arteries. Visceral arterial tortuosity, dominated by curves of lower frequency but higher amplitude according to the observed opposite tendency between the DM and SOAM metrics, could be a possible new predictor of serious manifestations of MFS.

Keywords: Arterial tortuosity; Marfan syndrome; Risk stratification; Visceral arteries.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arteries / abnormalities
  • Arteries / diagnostic imaging
  • Humans
  • Joint Instability
  • Marfan Syndrome*
  • Skin Diseases, Genetic*
  • Vascular Malformations

Supplementary concepts

  • Arterial Tortuosity Syndrome