Endocrine Abstracts

Background: Turner Syndrome (TS) is a complete or partial loss of the second X chromosome affecting approximately 1:2000 females, classically associated with short stature and hypogonadism. Cardiovascular complications in TS include increased risk of congenital cardiac malformations, hypertension, ischaemic heart disease and aortic dissection. Cardiovascular related deaths account for over 40% of the excess mortality in TS and requires lifelong monitoring and follow-up. The Clinical Practical Guidelines for the Care of Girls and Women with Turner Syndrome (published 2016) have provided recommendations for clinicians regarding frequency of cardiac imaging.

Methods: Girls attending a dedicated paediatric TS clinic at the Royal Hospital for Children Glasgow, from 2015-2020, were included. Information collected included age, age of diagnosis of TS, identified cardiac abnormality, hypertension, imaging type and frequency. The frequency of imaging (including echocardiogram and MRI) was obtained from a departmental database and compared to published recommendations.

Results: 51 girls with a median age of diagnosis of 0.83 years (range 0-16.71) were included. 32/51 (63%) girls had an echocardiogram performed within 6 months of diagnosis. 22 girls transferred to adult care during the 5-year study period. 14/12 (64%) girls had an echocardiogram performed in the two years prior to transfer to adult services. 21/51 girls met criteria to have biennial cardiac imaging: 28% attained this prior to 2016 and 40% after 2016 (NS). 30/51 girls met the criteria to have cardiac imaging every 5 years: 43% attained this prior to 2016 and 52% after 2016 (NS). Echocardiography was the most common imaging modality used.

Conclusions: Currently in our centre not all girls are routinely referred for cardiac imaging at the recommended time intervals. Further evidence supporting the implementation of regular routine imaging is required for this to be deemed practical in most paediatric centres.