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CC BY 4.0 · Aorta (Stamford) 2020; 08(05): 121-131
DOI: 10.1055/s-0040-1714384
Original Research Article

Abnormal Aortic Wall Properties in Women with Turner Syndrome

Lidia R. Bons 
1   Department of Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
2   Department of Radiology and Nuclear Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
,
Allard T. Van Den Hoven 
1   Department of Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
,
Maira Malik
1   Department of Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
,
Annemien E. Van Den Bosch
1   Department of Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
,
Jacky S. McGhie
1   Department of Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
,
Anthonie L. Duijnhouwer 
3   Department of Cardiology, Radboud University Medical Center, Nijmegen, The Netherlands
,
Hans-Marc J. Siebelink
4   Department of Cardiology, Leiden University Medical Center, Leiden, The Netherlands
,
Alexander Hirsch 
1   Department of Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
2   Department of Radiology and Nuclear Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
,
Daniel H. Devos
5   Department of Radiology, Ghent University Hospital, Gent, Belgium
,
Ernst Rietzschel
6   Department of Cardiology, Ghent University Hospital, Gent, Belgium
,
Jan H. von der Thüsen 
7   Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
,
Ingrid M.B.H. van de Laar
8   Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
,
Judith M.A. Verhagen 
8   Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
,
Ingrid van der Pluijm
9   Department of Vascular Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
10   Department of Molecular Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
,
Ricardo P.J. Budde
1   Department of Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
2   Department of Radiology and Nuclear Medicine, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
,
Jolien W. Roos-Hesselink 
1   Department of Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands
› Institutsangaben Funding This study was supported by the Dutch Heart Foundation (contract grant number: 2013T093).
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Abstract

Background Turner syndrome (TS) is associated with aortic dilatation and dissection, but the underlying process is unclear. The aim of this study was to investigate the elastic properties and composition of the aortic wall in women with TS.

Methods In this cross-sectional study, 52 women with TS aged 35 ± 13 years (50% monosomy, 12 with bicuspid aortic valve [BAV] and 4 with coarctation) were investigated using carotid-femoral pulse wave velocity (CF-PWV) by echocardiography and ascending aortic distensibility (AAD) and aortic arch pulse wave velocity (AA-PWV) by magnetic resonance imaging (MRI). As control group, 13 women with BAV without TS and 48 healthy patients were included.

Results Women with TS showed a higher AA-PWV (β = 1.08, confidence interval [CI]: 0.54–1.62) after correcting for age and comorbidities compared with controls. We found no significant difference in AAD and CF-PWV. In women with TS, the presence of BAV, coarctation of the aorta, or monosomy (45, X) was not associated with aortic stiffness. In addition, aortic tissue samples were investigated with routine and immunohistochemical stains in five additional women with TS who were operated. The tissue showed more compact smooth muscle cell layers with abnormal deposition and structure of elastin and diminished or absent expression of contractile proteins desmin, actin, and caldesmon, as well as the progesterone receptor.

Conclusion Both aortic arch stiffness measurements on MRI and histomorphological changes point toward an inherent abnormal thoracic aortic wall in women with TS.

Keywords

Turner syndrome - aortic stiffness - pulse wave velocity - echocardiography - cardiovascular magnetic resonance

Supplementary Material



Publikationsverlauf

Eingereicht: 08. November 2019

Angenommen: 30. Mai 2020

Artikel online veröffentlicht:
23. Dezember 2020

© 2020. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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