Low‐level 45,X/46,XX mosaicism is not associated with congenital heart disease and thoracic aorta dilatation:prospective magnetic resonance imaging and ultrasound study

• Published in: Ultrasound in obstetrics & gynecology Vol. 45; no. 6; pp. 722 - 727
• Main Authors: Klásková, E., Tüdös, Z., Sobek, A., Zapletalová, J., Dostál, J., Zbořilová, B., Adamová, K., Lattová, V., Dostálová, Z., Procházka, M.
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01-06-2015; Wiley Subscription Services, Inc
• Subjects: Adult; Aneurysm, Dissecting - genetics; Aortic Aneurysm, Thoracic - genetics; Aortic Coarctation - diagnostic imaging; Aortic Coarctation - epidemiology; Aortic Coarctation - genetics; aortic dissection; Aortic Valve - abnormalities; Aortic Valve - diagnostic imaging; assisted reproduction; Bicuspid Aortic Valve Disease; Chromosomes, Human, X; congenital heart disease; Dilatation; Female; Fertilization in Vitro; Heart Defects, Congenital - genetics; Heart Valve Diseases - diagnostic imaging; Heart Valve Diseases - genetics; Humans; Infertility, Female - genetics; low‐level sex chromosome mosaicism; Magnetic Resonance Imaging; Mosaicism; Pregnancy; Prevalence; Prospective Studies; Risk Factors; Sex Chromosome Aberrations; Turner syndrome; Ultrasonography; congenital heart disease; assisted reproduction; magnetic resonance imaging; Turner syndrome; aortic dissection; low-level sex chromosome mosaicism
• ISSN: 0960-7692; 1469-0705
• DOI: 10.1002/uog.14627

ABSTRACT
Objective
To establish the prevalence of risk factors for aortic dissection, such as bicuspid aortic valve, aortic coarctation and ascending aorta dilatation, in women with low‐level 45,X/46,XX mosaicism undergoing an in‐vitro fertilization (IVF) procedure.
Methods
The study group comprised 25 women with low‐level 45,X/46,XX mosaicism (ranging from 3.3% to 10.0%) who were referred to two reproductive medicine units between 2009 and 2013 because of infertility and who underwent subsequent karyotyping. In accordance with the recommendation of the Practice Committee of the American Society for Reproductive Medicine for patients with Turner syndrome (TS), prior to the IVF procedure, all women underwent careful cardiovascular screening for congenital heart disease and thoracic aorta dilatation, including standard cardiac examination, echocardiography and non‐contrast cardiac magnetic resonance imaging. Aortic size index (ASI, diameter of the ascending aorta normalized to body surface area) and the prevalence of coarctation of the aorta and of bicuspid aortic valve were compared with findings previously reported in women with TS and the general population.
Results
Bicuspid aortic valve without any stenosis or regurgitation was found in one woman in the study group with low‐level 45,X/46,XX mosaicism, a statistically significantly lower prevalence of bicuspid aortic valve than that reported in women with TS. Aortic coarctation was not identified in any individual. The ASI was below the  95th percentile in all cases and the mean value was significantly lower than the mean reference values for both the general population and women with TS.
Conclusion
Compared with the general population, the prevalence of risk factors for aortic dissection was not found to be higher in women with low‐level 45,X/46,XX mosaicism without any noticeable features except infertility. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.