Abstract
BackgroundClinical 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 resultsSplenic 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.ConclusionTo 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.
Highlights
Marfan syndrome (MFS) is a genetically determined, autosomal dominantly inherited connective tissue disorder that involves the skeletal, the ocular and the cardiovascular systems
It is well known that there is a whole spectrum of connective tissue disorders presenting with increased arterial tortuosity, including arterial tortuosity syndrome caused by the mutation of SLC2A10 gene [19], Loeys-Dietz syndrome with different mutations in genes encoding proteins involved in the transforming growth factor-β (TGF-β) signaling (TGFB2, TGFB3, TGFBR1, TGFBR2, SMAD2 or SMAD3) [20] and autosomal recessive cutis laxa type IB caused by the mutation of FBLN4 gene [21]
We demonstrated for the first time that tortuosity of visceral vessels, namely the splenic and the two renal arteries, is increased in MFS when compared to the non-MFS population
Summary
Marfan syndrome (MFS) is a genetically determined, autosomal dominantly inherited connective tissue disorder that involves the skeletal, the ocular and the cardiovascular systems. MFS is caused by a wide variety of mutations in the fibrillin-1 (FBN1) gene [2, 3]. Besides the obvious structural role of FBN1 in the. The most severe, life-threatening manifestation of MFS is aortic dissection that necessitates acute surgical intervention. It is of utmost importance to choose the optimal timing of properly planned operative solution, as if an acute intervention was needed, more reoperations could follow it [6]. Clinical evidence suggests that the currently recommended approach to estimate the risk of aortic dissection in Marfan syndrome (MFS) is not reliable enough. We investigated the possible role of visceral arterial tortuosity in the risk stratification
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