Karyotype-specific cardiovascular and metabolic profiles in Turner syndrome: a retrospective echocardiographic study

Turner syndrome (TS) is associated with cardiovascular abnormalities and metabolic risk, but karyotype-specific phenotypes remain incompletely defined, particularly in pediatric and adolescent cohorts assessed by transthoracic echocardiography (TTE).

We conducted a retrospective cross-sectional study of 289 patients with TS evaluated between October 2016 and October 2023. Patients were grouped as 45,X monosomy (n = 149) or mosaic/structural karyotypes (n = 140). Baseline or preoperative TTE data were used. The primary endpoint was a clinically relevant structural cardiovascular disease (CVD) composite based on explicit baseline/preoperative diagnoses of major lesions; patent foramen ovale, isolated persistent left superior vena cava, and minor valve regurgitation were treated as descriptive findings. Aortic dilatation based on ASI > 20 mm/m² was analyzed separately as an aortic-size phenotype.

The structural CVD composite was more frequent in the 45,X group than in the mosaic/structural group (49/149 [32.9%] vs. 26/140 [18.6%], p = 0.006). In multivariable logistic regression, 45,X remained associated with the structural CVD composite after adjustment for age, BMI, systolic blood pressure, LDL-C, and HOMA-IR (OR 1.88, 95% CI 1.05-3.35; p = 0.033). Aortic dilatation by ASI > 20 mm/m² did not differ significantly between groups (28.9% vs. 32.9%, p = 0.462). Elevated total cholesterol was more frequent in the 45,X group, and LDL-C was independently associated with the structural CVD composite. LVDD was modestly lower in the 45,X group (33.6 ± 6.6 vs. 35.4 ± 6.4 mm; p = 0.017).

In this single-center TS cohort, 45,X monosomy was associated with a higher burden of clinically relevant structural cardiovascular abnormalities and an adverse lipid profile, whereas ASI-defined aortic dilatation alone did not differ significantly by karyotype. These findings support karyotype-aware cardiovascular surveillance, while underscoring the need for cautious interpretation of small TTE differences and validation in multicenter longitudinal studies.