Clinical characteristics and rate of dilatation in Turner syndrome patients treated for aortic dilatation

Abstract

Turner syndrome is associated with an increased risk of aortic aneurysms and dissection. Recent 2017 clinical care guidelines recommend medical therapy to treat aortic dilatation, although whether this slows dilatation is unknown. We aimed to describe a pre‐guideline cohort of Turner syndrome patients with aortic dilatation, the rate of dilatation following diagnosis, and post therapy dilatation rates. We conducted a retrospective review of Turner syndrome patients with a dilated aortic root or ascending aorta by current definitions. In total, 40 patients were included with 22 treated patients. Most patients had 45,X karyotype, were white, non‐Hispanic, and received both growth hormone and estrogen. Except for hypertension, there were no differences in risk factors among treated and untreated groups. Bicuspid aortic valve was very common. Treatment group patients had significantly more dilated ascending aortas by absolute measurements and aortic size index. In an adjusted model, there was minimal change in aortic measures over time and this was not associated with medication use. In conclusion, in this cohort, Turner syndrome patients with aortic dilatation were more likely to be treated if they had hypertension and if they met multiple dilatation criteria. Further study is needed to establish medical therapy efficacy on dilatation progression.

Working towards risk stratification for ascending aortic dilatation in pediatric Turner syndrome patients: results of a longitudinal echocardiographical observation

“…Risk factor analysis showed a typical distribution of karyotype, proportion of BAV, and CoA in our population compared to the existing literature. The most important risk factor, as already widely established in the adult population, seems to be the bicuspid AV, being responsible for most of the cases with abnormal Z -scores [ 25 ]. One third of our BAV patients showed dilatation at least at one measuring level at baseline and this fraction increased to about 50% at the end of the observation period.…”

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

“…In the absence of a specific study comparing TS patients with adult women of the same height without TS, it is difficult to define an at-risk aortic diameter threshold. According to published findings, aortic diameter values exceeding 33 mm for the aortic sinus and 31 mm for the ascending aorta are considered, by some, to be pathological [ 65 ]. For a mean body surface area of 1.6 m 2 , an indexed ascending aortic diameter > 25 mm/m 2 corresponds to a diameter of 40 mm, i.e.…”