Prospective Evaluation of Aortic Dimensions in Turner Syndrome: A 2-Dimensional Echocardiographic Study

Background The prevalence of aortic disease, including dilatation of the proximal aorta, is higher in patients with Turner syndrome (TS) compared with healthy female control subjects, but there are no data regarding the prospective evaluation of aortic dimensions in this syndrome. Objective This study was undertaken to assess the: (1) prevalence of aortic root (AR) and proximal thoracic aorta enlargement by 2-dimensional echocardiography; and (2) evolution of aortic diameters over time. Methods In all, 78 patients with kariotypically proven TS (mean age 21.5 ± 9 years) underwent a 2-dimensional echocardiographic study of the proximal thoracic aorta at baseline and yearly thereafter, during a median follow-up period of 37 months (25th-75th percentile: 25-51). We investigated the AR, sinotubular aortic junction, and tubular portion of the ascending thoracic aorta. Linearity of the relationship between AR dimensions and body surface area allowed us to use Roman nomograms to identify patients with or without an enlarged AR. Results At baseline, 62 of 78 patients (80%) presented normal AR dimensions compared with 16 of 78 (20%) with AR dilatation. Mean AR diameter was 24.5 ± 3.6 versus 30.9 ± 4.6 mm ( P = .0001), sinotubular aortic junction was 18.0 ± 4.0 versus 21.7 ± 5.2 mm ( P = .015), and ascending thoracic aorta was 21.1 ± 4.1 versus 26.6 ± 6.0 mm, respectively ( P = .003). The incidence of AR dilatation was similar in patients younger than 18 years or 18 years and older. During follow-up, we observed a similar significant, albeit minor, increase in aortic diameters in all patients. However, the absolute entity of this increase was not clinically relevant. Lymphedema at birth was the only significant clinical variable observed more frequently in patients with AR enlargement compared with those with normal AR. Conclusions Proximal aortic dimensions in patients with TS did not change rapidly in our medium-term follow-up study. The progression of AR dimensions was similar in patients with (20%) or without baseline AR dilatation. Age did not affect the pattern and evolution of aortic disease in TS.