Aortic elasticity deterioration proves intrinsic abnormality of the ascending aorta in pediatric Turner syndrome unrelated to the aortic valve morphology

Abstract

Turner syndrome (TS) is a common genetic disorder in females with high incidence of ascending aortic dilatation and even dissection occurring as early as in the second decade. Known risk factors (RF) are bicuspid aortic valves (BAV), coarctation of the aorta (CoA), and arterial hypertension. Since 10% of dissections occur in patients without RF, an intrinsic aortic wall abnormality has been postulated. This study aimed to investigate the elasticity of the ascending aorta as a surrogate marker of aortic wall texture. Forty-six pediatric patients with genetically proven TS were prospectively examined for the morphology of their aortic valve, and size and elasticity indices of the adjacent aorta. Cohorts of 46 female subjects with tricuspid aortic valves (TAV) and ten non-syndromic females with BAV were investigated as separate control groups. Comparison of healthy controls with TS patients revealed significantly deteriorated elasticity indices in those with TS. Furthermore, normalized aortic dimensions were greater in TS patients, but dilatations of the ascending aorta with z-score levels above two were restricted to those with BAV (14/46). Deteriorated elasticity indices were measured in TS patients, independent of aortic dilatation, BAV, and CoA, and were comparable to those of patients with isolated, non-syndromic BAVs. By measuring elasticity levels as a surrogate for aortic wall texture, we were able to gather evidence that TS presents with an intrinsic abnormality of the ascending aorta even in patients without concomitant BAV, CoA or dilatations as early as in childhood.

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

“…Coarctation is associated with an increased likelihood of aortic dilation and dissection (Bambul Heck, Pabst von Ohain, Kaemmerer, Ewert, & Hager, ; Cools, Brown, & Gewillig, ; Eckhauser et al, ). Hypertension, a common consequence of aortic coarctation that may manifest in childhood, and altered compliance or distensibility of the aorta, which is prevalent in patients with coarctation, may both contribute to aortic disease (Hjerrild et al, ; Pees et al, ; Schoepp et al, ; Wen et al, ). Re‐interventions due to re‐coarctation are often necessary in adulthood.…”

Evaluation of the Effect of Essential Hypertension on Elasticity of Ascending Aorta in Type 2 Diabetic Mellitus Patients by Echocardiography

“…Previous studies have evaluated the impairment in ascending aortic elastic properties in different diseases using different techniques to analyze the above elastic parameters. 13 –18 Although many studies 19,20 analyzed the prevalence of aortic stiffness in either hypertensive and diabetic patients, only few were conducted to investigate whether essential hypertension (EH) or type 2 diabetes mellitus (T2DM) had a greater effect on aortic stiffness in patients with T2DM + EH.…”

Abnormal Aortic Wall Properties in Women with Turner Syndrome

“…Others have also investigated whether the presence of BAV can explain the increased aortic stiffness in patients with TS but the results are contradictory. Two studies 8 23 showed reduced ascending aortic distensibility and increased AA-PWV independently of the presence of BAV, while Devos et al 9 showed that only patients with BAV have a reduced ascending aortic distensibility. Our results are more in line with the first study, since we found no effect of BAV on stiffness.…”