Abstract
Turner syndrome (TS) is a genetic disorder presenting in phenotypic females with total or partial monosomy of the X chromosome. Cardiovascular abnormalities are common, including congenital heart defects (CHD) and aortic dilation. Although mosaic TS is suspected to have less severe phenotype as compared to non-mosaic TS, differences in cardiovascular manifestations between karyotypes are not well studied. This is a single-center retrospective cohort study including patients with TS seen from 2000 to 2022. Demographic data, chromosomal analysis, and imaging were reviewed. Karyotypes were categorized as monosomy X (45X), 45X mosaicism, isochromosome Xq, partial X deletions, ring X (r(X)), TS with Y material, and others. Prevalence of CHD and aortic dilation were compared between monosomy X and other subtypes using Pearson's chi-square test and Welch two-sample t-test. We included 182 TS patients with median age 18 (range 4-33) years. CHD was more common in monosomy X as compared with others (61.4% vs. 26.8%, p < 0.001), including bicuspid aortic valve 44.3vs.16.1 p>< 0.001), partial anomalous pulmonary venous return 12.9vs.2.7 p=" 0.023)," persistent left superior vena cava 12.9vs.1.8 p=" 0.008)," and coarctation of the aorta 20.0vs.4.5 p=" 0.003)." cardiac surgery 24.3vs.8.9 p=" 0.017)" was more prevalent in the monosomy x group. there was no statistically significant difference for presence of aortic dilation 7.1 vs 1.8 p=" 0.187)." although chd and need for cardiac surgery are more common in ts with monosomy x as compared to others all ts subtypes may have similar risk of developing aortic dilation. all ts patients should have similar cardiovascular surveillance testing to monitor for aortic dilation.>
