Turner syndrome has well-recognized cardiovascular complications that appear in up to 40% of the patients and are more common in monosomy X. Left-sided obstructive lesions are relatively more frequent and predispose to aortic root dilatation and life-threatening aortic dissection. However, bicuspid aortic valves, hypertension, coarctation and aortic stenosis are also at risk of aortic dissection. Currently there is no clear guideline regarding the best single test for detection or monitoring aortic disease progression.Design
Routine thoracic aortic magnetic resonance imaging (MRI) was introduced to the dedicated Turner syndrome clinic, with repeated MRI examination every 2 years to detect or assess progression of aortic lesions.Results
Seven out of a total of 17 patients developed aortic anomalies during the course of surveillance, which included coarctation as well as aortic dilatation. None of these patients had any cardiovascular symptoms and the vascular abnormalities were detected on MRI at presentation or during the course of their follow-up. In patients with previously normal aortic imaging, the time interval for the lesion to be detectable varied between 2 and 6 years. In one patient there was progression of an established lesion over the 2-year period.Conclusion
In the few patients presented here, regular imaging at first consultation followed by every 2 years would appear to be warranted, although the exact frequency of imaging and by what modality still need to be ascertained definitively.