Impaired Elasticity and Ascending Aortic Size in Young Turner Patients

Introduction: With an incidence of 1 in 2.500 live born females, Turner syndrome is the most common numerical gonosomal abnormality. Among others, cardiac defects such as bicuspid aortic valves (BAV) occur frequently and are the presumed main cause for the 3-fold increased mortality compared with the general population. Dissections of aortic aneurysms are six times more likely and tend to happen earlier in life and at considerably less aortic enlargement. Previous studies ascribe this mainly to a reduced aortic elasticity, however, pediatric data are scant.

Methods: We conducted a prospective age-controlled cross-sectional echocardiographic study quantifying stiffness, distensibility and size of the ascending aortic wall and aortic valve morphology of 31 pediatric patients with Turner Syndrome aged 0 to 21 years and 63 normotensive females with structurally normal hearts.

Results: Significant differences were found for aortic stiffness (4.216 ± 1.885 in Turner patients compared with 3.102 ± 0.881 in control probands, p < 0.003) as well as distensibility (51.94 ± 22.08 kPa⁻¹ × 10⁻³ compared with 70.72 ± 23.08 kPa⁻¹ × 10⁻³, p < 0.001). The mean diameter of the aorta was wider in patients with Turner Syndrome if measured at the level of the aortic root, the sinotubular junction as well as the ascending aorta (p < 0,002, p < 0,001, p ≤ 0,001, respectively). No difference was found at the level of the aortic valve.

Only 6 patients (19%) were diagnosed with BAV, making significant interpretation of its influence difficult. Correlation equation revealed significant correlations between aortic sizes but not elasticity in Turner patients with and without BAV.

Conclusion: Our findings indicate that patients with Turner Syndrome tend to have wider ascending aortic diameters with deteriorated elastic properties as early as in childhood, making regular cardiac monitoring mandatory.