ArticleOrphanet journal of rare diseases2026
Karyotype-specific cardiovascular and metabolic profiles in Turner syndrome: a retrospective echocardiographic study.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundTurner 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).
methodsWe 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.
resultsThe 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).
conclusionsIn 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.
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