Cardiovascular phenotypes of children and adolescents with Turner syndrome from a single-center cohort study

Approximately half of the patients with Turner syndrome (TS) have congenital or acquired cardiovascular diseases. The objectives of this study were to improve the early diagnosis of TS and to predict the risk of severe cardiovascular diseases in patients with TS by analyzing the main features of cardiovascular diseases in these patients.

This study included 107 patients with TS who underwent echocardiography and were admitted to the Shanghai Children's Medical Center between November 2019 and November 2024. In this study, the height, weight, age, karyotype, cardiac imaging data, and electrocardiograms of the patients were collected. The main features of the cardiovascular diseases in patients with TS were assessed, and the correlations between the height, body mass index (BMI), karyotype, and cardiovascular diseases were analyzed.

Overall, 107 patients with TS were included, with an average age of 9.68 ± 4.23 years at diagnosis. Bicuspid aortic valve (BAV), aortic coarctation (CoA), and persistent left superior vena cava (PLSVC) were the most prevalent cardiovascular diseases, with prevalence rates of 11.2% (12/107), 8.4% (9/107), and 9.3% (10/107), respectively. The partial anomalous pulmonary venous return (PAPVC) was of the 'supra cardiac type' in all cases. Patients with CoA had lower BMI-for-age Z-score (BMIAZ) (-0.81 ± 1.17 vs. 0.61 ± 0.99; P = 0.003) than those without CoA. The best cutoff for predicting CoA was calculated using a sensitivity of 0.857 and specificity of 0.697 with a BMIAZ of 0.115 and an area under the curve of 0.825 (P = 0.004). Moreover, CoA (63.3%, 7/11) was the leading cause for surgical and interventional procedures in children and adolescents with TS. The 45,X karyotype was found to be associated with congenital heart disease (CHD) (47.4% vs. 24.6%; P = 0.016).

Girls with BAV or CoA should undergo karyotyping to facilitate the early diagnosis of TS. CoA is the leading cause for surgical and interventional procedures in children and adolescents with TS. The BMIAZ is a reliable predictor of CoA. Cardiovascular magnetic resonance (CMR) or computed tomography (CT) should be performed at the time of diagnosis for girls with TS, especially those with a 45,X karyotype, BMIAZ < 0.115, or CHD detected by echocardiography.