Abnormalities of the major intrathoracic arteries in Turner syndrome as revealed by magnetic resonance imaging
Abstract
BACKGROUND: Ectatic aortopathy and arterial abnormalities cause excess morbidity and mortality in Turner syndrome, where a state of vasculopathy seemingly extends into the major head and neck branch arteries. OBJECTIVE: We investigated the prevalence of abnormalities of the major intrathoracic arteries, their interaction with arterial dimensions, and their association with karyotype. DESIGN: Magnetic resonance imaging scans determined the arterial abnormalities as well as head and neck branch artery and aortic dimensions in 99 adult women with Turner syndrome compared with 33 healthy female controls. Echocardiography determined aortic valve morphology. RESULTS: In Turner syndrome, the relative risk of any congenital abnormality was 7.7 (p = 0.003) and 6.7 of ascending aortic dilation (p = 0.02). A bovine aortic arch was seen in both Turner syndrome and controls. Other abnormalities were only encountered in Turner syndrome: elongated transverse aortic arch (47%), bicuspid aortic valve (27%), aortic coarctation (13%), aberrant right subclavian artery (8%), and aortic arch hypoplasia (2%). The innominate and left common carotid arteries were enlarged in Turner syndrome (p < 0.001). Significant associations were first, bicuspid aortic valve with aortic coarctation, elongated transverse aortic arch, and ascending aortic dilation; second, aortic coarctation with elongated aortic arch and descending aortic dilation; third, 45,X with aortic coarctation, elongated transverse aortic arch and ascending aortic dilation; and fourth, branch artery dilation with bicuspid aortic valve, aortic coarctation, elongated transverse aortic arch and 45,X. CONCLUSION: An increased risk of arterial abnormalities, aortic dilation, and enlargement of the branch arteries was found in Turner syndrome without distinct patterns of co-segregation.
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Non-invasive imaging is an essential part of cardiovascular screening and surveillance across the life span of individuals with TS.
“Non-invasive imaging is an essential part of cardiovascular screening and surveillance across the life span of individuals with TS,233,388,396,418-423 but imaging remains underutilized and not systematically applied.420,424”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [419]
Dilation of the aorta, brachiocephalic and carotid arteries may be present even in the absence of structural heart disease, consistent with an underlying generalized arteriopathy.
“Dilation of the aorta, brachiocephalic and carotid arteries may be present even in the absence of structural heart disease, consistent with an underlying generalized arteriopathy.419,436,437”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [419]
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- Authors
- Mortensen, K. H., Hjerrild, B. E., Andersen, N. H., Sørensen, K. E., Hørlyck, A., Pedersen, E. M., Lundorf, E., Christiansen, J. S., & Gravholt, C. H.
- Affiliations
- Aarhus University Hospital (DK)
- Corresponding author
- Mortensen, Kristian Havmand
- ORCID
- Venue
- Cardiology in the Young
- Publisher
- Cambridge University Press (CUP)
- Published
- 2010-03-22
- Volume
- 20
- Issue
- 2
- Pages
- 191-200
- ISSN
- 1047-9511 (ISSN-L)
- 1467-1107
- OpenAlex
- W2123664848
- Cited by
- 93
- References
- 24
- Citations by year
- 2025: 2 · 2024: 26 · 2023: 2 · 2022: 6 · 2021: 3 · 2020: 7 · 2019: 3 · 2018: 8 · 2017: 7 · 2016: 7 · 2015: 2 · 2014: 1 · 2013: 8 · 2012: 8
- FWCI
- 3.42
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Cardiology in the Young (publishedVersion)
- PubMed (publishedVersion)
- Funders
- University of Cambridge
- Snedkermester Sophus Jacobsen og Hustru Astrid Jacobsens Fond
- Mokslo, Inovaciju ir Technologiju Agentura
- Danish Agency for Science and Higher Education
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Health Sciences › Medicine › Surgery › Vascular anomalies and interventions
- Keywords
- Turner syndrome, aortic dilatation, coarctation of the aorta, bicuspid aortic valve, aberrant right subclavian artery, aortic arch hypoplasia, bovine aortic arch, karyotype, 45,X, aortic valve morphology, congenital arterial anomalies
- MeSH terms
- Adolescent, Adult, Aorta, Thoracic, Dilatation, Pathologic, Female, Head, Humans, Magnetic Resonance Imaging, Middle Aged, Neck, Subclavian Artery, Turner Syndrome, Ultrasonography, Brachiocephalic Trunk, Carotid Artery, Common, Young Adult
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