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
While 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 in 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.