Metabolic features and postoperative outcomes in Turner syndrome with congenital heart disease

Turner syndrome (TS) is associated with congenital heart disease (CHD), aortopathy and cardiometabolic risk, but baseline features and early postoperative outcomes in TS with CHD remain incompletely defined.

This single-center retrospective cohort included 289 patients with TS from 2016 to 2024: surgically treated CHD (n = 43), unoperated CHD (n = 68), and no CHD (n = 178). Each TS surgical patient was individually matched 1:1 to a non-TS comparator by age at surgery, with CHD diagnosis and surgical procedure also considered when applicable. Baseline variables were analyzed using univariable tests with Benjamini-Hochberg correction and multivariable logistic regression. Echocardiographic outcomes were evaluated using separate BSA-adjusted linear regression models at the preoperative assessment and each postoperative follow-up visit.

TS patients with CHD had a higher prevalence of non-mosaic 45,X karyotype than those without CHD (67.6% vs 41.0%; q < 0.001). In multivariable analysis, non-mosaic 45,X (adjusted OR 2.97, 95% CI 1.73-5.11) and elevated total cholesterol (adjusted OR 2.35, 95% CI 1.19-4.62) were associated with CHD. Postoperative echocardiographic differences between TS and non-TS surgical patients were exploratory after multiple-testing correction.

CHD in TS was associated with non-mosaic 45,X and dyslipidemia. These findings reinforce the importance of comprehensive cardiovascular and metabolic assessment, with consideration of karyotype.

TS with CHD was associated with enrichment of non-mosaic 45,X karyotype and a higher burden of dyslipidemia. Postoperative echocardiographic differences were exploratory after adjustment for multiple testing. The findings reinforce the importance of comprehensive cardiovascular and metabolic assessment, with consideration of karyotype, in TS patients with CHD.