Aortic dimensions in Turner syndrome

Area of Science:

• Cardiology
• Genetics
• Pediatrics

Background:

• Turner syndrome is associated with reduced linear growth compared to the general population.
• Specific reference curves for cardiac structures, particularly the aorta, are lacking for Turner syndrome.
• Inaccurate aortic size assessment in Turner syndrome can lead to over-estimation, causing patient distress and potential overtreatment.

Purpose of the Study:

• To develop condition-specific reference curves for thoracic aortic diameters in girls and women with Turner syndrome.
• To enable accurate Z-score calculation for aortic dimensions in Turner syndrome patients.
• To provide a clinical tool for better management of cardiovascular risks in Turner syndrome.

Main Methods:

• Echocardiography was used to measure aortic diameters at eight thoracic levels in 481 participants with Turner syndrome (age 2-70 years).
• Linear regression analyses were performed to identify factors influencing aortic size.
• Exclusion of subjects with bicuspid aortic valve was necessary as it independently affects aortic size.

Main Results:

• Regression equations for aortic diameters were calculated based on body surface area.
• Z-scores for 1, 2, and 3 standard deviations from the mean were plotted.
• The study identified key determinants of aortic size in Turner syndrome, excluding bicuspid aortic valve.

Conclusions:

• The developed Turner-based reference population provides accurate aortic Z-scores.
• This resource will assist clinicians in precise aortic assessment for Turner syndrome patients.
• Accurate assessment can mitigate over-estimation of aortic size, reducing medicalization and overtreatment.