Impaired aortic stiffness in Turner syndrome

Turner syndrome (TS) results from a complete or partial absence of the second X chromosome in females and is most commonly clinically manifested by short stature and premature ovarian failure. In addition aortic abnormalities contribute to increased morbidity and mortality of women with TS. While previous studies suggest that measurement of aortic stiffness may be clinically valuable in the prediction, assessment and treatment of cardiovascular disorders in TS, no prior studies have investigated the relationship of X chromosome parental origin to aortic functional characteristics in TS patients.

Abd-Elmoniem et al. conducted a cross-sectional study on 24 patients with TS to assess the relationship between X chromosome parental origin and aortic stiffness. The study demonstrates that TS subjects with maternally originating X chromosome have a significantly stiffer aorta compared with the TS with a paternally originating X chromosome. Their study suggests that parental chromosomal analysis and aortic stiffness measurements would be useful for the risk assessment and clinical management of TS patients.

Read full article at Abd-Elmoniem et al. (2014) Clinical Endocrinology 80 467 – 470, DOI: 10.1111/cen.12481