Long-term outcomes in patients with Turner syndrome: A 68-year follow-up
Journal of the American Heart Association May 31, 2019
Fuchs MM, et al. - Using a large cohort of patients with Turner syndrome (TS) observed at Mayo Clinic Rochester from 1950 to 2017, researchers examined long-term outcomes in TS in this retrospective review. With an average age of 9 (range, 2–12) years at diagnosis, 317 patients with TS were analyzed. A total of 202 (64%) underwent genetic testing and 75 (37%) had pure monosomy X. Overall 131 (41%) had congenital heart disease; bicuspid aortic valve (n=102, 32%) and coarctation of the aorta (n=43, 14%) were reported as the most frequently seen lesions. Patients commonly developed ascending aortic dilation, with mean aortic root size index 2 cm/m2; six (2%) patients suffered aortic dissection. Reduced survival was evident in patients with TS vs age-matched controls, and deaths were mainly attributed to cardiovascular disease.
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