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.