How to Cite this Article: Jagannath AD, Rastogi U, Spooner AE, Lin AE, Agnihotri AK. 2010. Aortic dissection and moyamoya disease in Turner syndrome. Am J Med Genet Part A 152A:2090–2093.
Aortic dissection and moyamoya disease in Turner syndrome†
Article first published online: 15 JUL 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 8, pages 2085–2089, August 2010
How to Cite
Jagannath, A. D., Rastogi, U., Spooner, A. E., Lin, A. E. and Agnihotri, A. K. (2010), Aortic dissection and moyamoya disease in Turner syndrome. Am. J. Med. Genet., 152A: 2085–2089. doi: 10.1002/ajmg.a.33539
- Issue published online: 20 JUL 2010
- Article first published online: 15 JUL 2010
- Manuscript Accepted: 6 MAY 2010
- Manuscript Received: 25 JAN 2010
- aortic dilation;
- aortic dissection;
- Turner syndrome;
- vascular disease;
Aortic dilation and dissection are well-recognized cardiac abnormalities in women with Turner syndrome (TS), although the underlying pathophysiology is not fully understood. We report on a 46-year-old Hispanic woman who was previously diagnosed with moyamoya disease on magnetic resonance imaging after a presentation with stroke-like symptoms. Her features were consistent with TS and chromosome analysis revealed mosaicism in which 17% of the cells showed a pseudoisodicentric Y chromosome: 45,X (25)/46,X psu idic (Y)(11.2) (5). A preceding screening transthoracic echocardiogram had shown a bicuspid aortic valve (BAV) with an aortic diameter of 3.2 cm; at the time of moyamoya diagnosis, the aorta was 3.5 cm with mild aortic stenosis and mild aortic regurgitation. Four years later, the patient had had an acute aortic dissection, Stanford type A, which was repaired successfully. This case report is the third individual with TS associated with moyamoya disease and the first associated with dissection. The small number of cases does not allow detailed analysis other than noting patient age (two older than 40 years), karyotype (two others associated with isochrome Xq), and associated cardiac risk factors (one with BAV). Although this may be a chance occurrence, we hypothesize that moyamoya disease could be a manifestation of the vasculopathy in TS. © 2010 Wiley-Liss, Inc.