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Abnormalities of the major intrathoracic arteries in Turner syndrome as revealed by magnetic resonance imaging

Published online by Cambridge University Press:  22 March 2010

Kristian Havmand Mortensen ,
Britta Eilersen Hjerrild ,
Niels Holmark Andersen ,
Keld Ejvind Sørensen ,
Arne Hørlyck ,
Erik Morre Pedersen ,
Erik Lundorf ,
Jens Sandahl Christiansen  and
Claus Højbjerg Gravholt
Kristian Havmand Mortensen*
Affiliation:
Medical Department M (Endocrinology and Diabetes) and Medical Research Laboratories, Aarhus University Hospital, Aarhus Hospital NBG, Aarhus, Denmark
Britta Eilersen Hjerrild
Affiliation:
Medical Department M (Endocrinology and Diabetes) and Medical Research Laboratories, Aarhus University Hospital, Aarhus Hospital NBG, Aarhus, Denmark
Niels Holmark Andersen
Affiliation:
Medical Department M (Endocrinology and Diabetes) and Medical Research Laboratories, Aarhus University Hospital, Aarhus Hospital NBG, Aarhus, Denmark Department of Cardiology B, Aarhus University Hospital, Skejby, Aarhus, Denmark
Keld Ejvind Sørensen
Affiliation:
Department of Cardiology B, Aarhus University Hospital, Skejby, Aarhus, Denmark
Arne Hørlyck
Affiliation:
Department of Radiology, Aarhus University Hospital, Skejby, Aarhus, Denmark
Erik Morre Pedersen
Affiliation:
The MR Research Centre, Aarhus University Hospital, Skejby, Aarhus, Denmark
Erik Lundorf
Affiliation:
Department of Radiology, Aarhus University Hospital, Aarhus Hospital NBG, Aarhus, Denmark
Jens Sandahl Christiansen
Affiliation:
Medical Department M (Endocrinology and Diabetes) and Medical Research Laboratories, Aarhus University Hospital, Aarhus Hospital NBG, Aarhus, Denmark
Claus Højbjerg Gravholt
Affiliation:
Medical Department M (Endocrinology and Diabetes) and Medical Research Laboratories, Aarhus University Hospital, Aarhus Hospital NBG, Aarhus, Denmark
*
Correspondence to: Kristian H. Mortensen, MD, Medical Department M (Endocrinology and Diabetes) and Medical Research Laboratories, Aarhus University Hospital, Noerrebrogade 44, DK-8000 Aarhus C, Denmark. Tel: +45 89 49 20 35; Fax: +45 89 49 20 72; E-mail: [email protected]
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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.

Keywords

Congenital heart diseasebicuspid aortic valveaortic coarctationaortaelongated transverse aortic archaortic arch hypoplasia
Type
Original Articles
Information
Cardiology in the Young , Volume 20 , Issue 2 , April 2010 , pp. 191 - 200
Copyright
Copyright © Cambridge University Press 2010

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