Cardiovascular management in Turner syndrome

Turner syndrome (TS), resulting from the total or partial absence of the X chromosome affects 1/2500 liveborn girls. Mortality rates are three times higher in women with TS than in the general female population largely due to cardiovascular complications, such as aortic dilatation and dissection. Donadille et al. therefore aimed to investigate cardiovascular findings and management in a large cohort of French patients with TS including infants, children, adolescents and adults. For this purpose, they reviewed the medical charts of patients and investigated the occurrence and timing of cardiovascular abnormalities to assess the standardisation of cardiovascular follow-up in patients with TS.

The results of their study shed further light on the cardiovascular features of TS and find that cardiovascular monitoring for TS patients is currently insufficient in France. Furthermore, although bicuspid aortic valve (BAV) is present at birth, it often remains undiagnosed until later in life. The study shows that careful cardiovascular monitoring is required, and that a more systematic approach should be taken. Donadille et al. (2012) European Journal of Endocrinology 167 517-522.

Read the full article at: DOI: 10.1530/EJE-12-0434