Background: The increased risk for congenital heart malformations in Turner syndrome (TS) is well established with a prevalence ranging from 17 to 45%. The associated cardiac anomalies and normal parameters for aortic dimensions in TS have not been previously reported from Sri Lanka.
Objective and hypotheses: To document parameters for aortic dimensions and describe structural and functional cardiac abnormalities in a cohort of children with TS.
Method: Girls with karyotype proven TS, attending an Endocrinology Clinic were evaluated by a pediatric cardiologist using two-dimensional and colour Doppler echocardiography. Aortic annulus, aortic sinus, sino tubular junction, and ascending aortic dimensions were measured. Dysmorphic features and blood pressure were documented.
Results: 28 patients (520 years) with a karyotype distribution of: 45,X (75%), X-mosaicism (14%), and X-structural abnormalities (10%). Eleven of 28 (39.2%) had cardiovascular abnormalities: 9 (81%) were structural and 2 (18%) were functional (hypertension and mitral valve prolapse). Coarctation of aorta (COA) and bicuspid aortic valve (BAV) alone or in combination comprised 45% of the cardiac malformations. Fifteen (53%) had neck webbing of which 5 (33%) had associated BAV or COA. Bilateral SVC and PAPVD were seen in 10.7% each. Three had aortic annulus diameter above normal range. All had aortic sinus diameter in the normal range while diameters of ascending aorta had a wide variation with 5 (17%) being above normal range. One patient (20 years) who underwent surgical VSD closure had all aortic dimensions above normal range.
Conclusion: Echocardiography is recommended in TS to detect the presence of structural cardiac anomalies. Abnormal aortic dimensions were seen in 25% of our study population highlighting the importance of serial echocardiography in follow up of patients with TS.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology