How should I approach the screening for associated conditions, such as cardiovascular anomalies, in patients diagnosed with Turner Syndrome?

Approach to Screening for Cardiovascular Anomalies in Turner Syndrome

Patients diagnosed with Turner syndrome require comprehensive cardiovascular screening due to their high risk of congenital and acquired cardiovascular anomalies. Initial assessment should include detailed clinical evaluation and baseline imaging, typically with echocardiography, to identify common defects such as bicuspid aortic valve and coarctation of the aorta NICE NG137. Given the limitations of echocardiography in fully visualising the aortic arch and other vascular structures, advanced imaging modalities such as cardiac magnetic resonance imaging (MRI) or computed tomography (CT) angiography are recommended for detailed anatomical assessment and ongoing surveillance Sigakis et al. 2019Marin et al. 2015.

Screening should be performed at diagnosis and repeated periodically, as Turner syndrome patients are at risk of progressive aortic dilation and dissection. The frequency of follow-up imaging depends on initial findings but generally includes annual or biennial MRI or CT to monitor aortic dimensions and valve function Poprawski et al. 2009Marin et al. 2015. Blood pressure monitoring is essential due to the increased prevalence of hypertension, which further elevates cardiovascular risk NICE NG137.

In addition to structural anomalies, screening should encompass assessment for other cardiovascular risk factors such as lipid abnormalities and glucose intolerance, which are more common in Turner syndrome and contribute to long-term morbidity NICE NG137. Multidisciplinary management involving cardiology, endocrinology, and genetics is advised to optimise surveillance and intervention strategies.