Hostname: page-component-76fb5796d-x4r87 Total loading time: 0 Render date: 2024-04-26T23:05:14.128Z Has data issue: false hasContentIssue false
  • English
  • Français

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: kristian.havmand@ki.au.dk
Get access Rights & Permissions [Opens in a new window]

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

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1.Dawson-Falk, KL, Wright, AM, Bakker, B, Pitlick, PT, Wilson, DM, Rosenfeld, RG. Cardiovascular evaluation in Turner syndrome: utility of MR imaging. Australas Radiol 1992; 36: 204–209.CrossRefGoogle ScholarPubMed
2.Ho, VB, Bakalov, VK, Cooley, M, et al. Major vascular abnormalities in Turner syndrome: prevalence and magnetic resonance angiographic features. Circulation 2004; 110: 1694–1700.CrossRefGoogle ScholarPubMed
3.Mazzanti, L, Cacciari, E. Congenital heart disease in patients with Turner syndrome. Italian Study Group for Turner Syndrome (ISGTS). J Pediatr 1998; 133: 688–692.CrossRefGoogle Scholar
4.Sachdev, V, Matura, LA, Sidenko, S, et al. Aortic valve disease in Turner syndrome. J Am Coll Cardiol 2008; 51: 1904–1909.CrossRefGoogle ScholarPubMed
5.Sybert, VP. Cardiovascular malformations and complications in Turner syndrome. Pediatrics 1998; 101: E11.CrossRefGoogle ScholarPubMed
6.Gotzsche, CO, Krag-Olsen, B, Nielsen, J, Sorensen, KE, Kristensen, BO. Prevalence of cardiovascular malformations and association with karyotypes in Turner syndrome. Arch Dis Child 1994; 71: 433–436.CrossRefGoogle Scholar
7.Volkl, TM, Degenhardt, K, Koch, A, Simm, D, Dorr, HG, Singer, H. Cardiovascular abnormalities in children and young adults with Ullrich-Turner syndrome the Erlangen experience. Clin Cardiol 2005; 28: 88–92.CrossRefGoogle Scholar
8.Ostberg, JE, Donald, AE, Halcox, JP, Storry, C, McCarthy, C, Conway, GS. Vasculopathy in Turner syndrome: arterial dilatation and intimal thickening without endothelial dysfunction. J Clin Endocrinol Metab 2005; 90: 5161–5166.CrossRefGoogle ScholarPubMed
9.Baguet, JP, Douchin, S, Pierre, H, Rossignol, AM, Bost, M, Mallion, JM. Structural and functional abnormalities of large arteries in the Turner syndrome. Heart 2005; 91: 1442–1446.CrossRefGoogle ScholarPubMed
10.Bondy, CA. Aortic dissection in Turner syndrome. Curr Opin Cardiol 2008; 23: 519–526.CrossRefGoogle ScholarPubMed
11.Carlson, M, Silberbach, M. Dissection of the aorta in Turner syndrome: two cases and review of 85 cases in the literature. J Med Genet 2007; 44: 745–749.CrossRefGoogle ScholarPubMed
12.Gravholt, CH, Landin-Wilhelmsen, K, Stochholm, K, et al. Clinical and epidemiological description of aortic dissection in Turner syndrome. Cardiol Young 2006; 16: 430–436.CrossRefGoogle Scholar
13.Matura, LA, Ho, VB, Rosing, DR, Bondy, CA. Aortic dilatation and dissection in Turner syndrome. Circulation 2007; 116: 1663–1670.CrossRefGoogle ScholarPubMed
14.Schoemaker, MJ, Swerdlow, AJ, Higgins, CD, Wright, AF, Jacobs, PA. Mortality in women with turner syndrome in Great Britain: a national cohort study. J Clin Endocrinol Metab 2008; 93: 4735–4742.CrossRefGoogle ScholarPubMed
15.Prandstraller, D, Mazzanti, L, Giardini, A, et al. Correlations of phenotype and genotype in relation to morphologic remodelling of the aortic root in patients with Turner syndrome. Cardiol Young 2009; 19: 264–271.CrossRefGoogle Scholar
16.Sorensen, TS, Korperich, H, Greil, GF, et al. Operator-independent isotropic three-dimensional magnetic resonance imaging for morphology in congenital heart disease: a validation study. Circulation 2004; 110: 163–169.CrossRefGoogle ScholarPubMed
17.Layton, KF, Kallmes, DF, Cloft, HJ, Lindell, EP, Cox, VS. Bovine aortic arch variant in humans: clarification of a common misnomer. Am J Neuroradiol 2006; 27: 1541–1542.Google ScholarPubMed
18.Oh, JK, Taliercio, CP, Holmes, DR Jr, et al. Prediction of the severity of aortic stenosis by Doppler aortic valve area determination: prospective Doppler-catheterization correlation in 100 patients. J Am Coll Cardiol 1988; 11: 1227–1234.CrossRefGoogle ScholarPubMed
19.Bonow, RO, Carabello, BA, Kanu, C, et al. ACC/AHA 2006 guidelines for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (writing committee to revise the 1998 guidelines for the management of patients with valvular heart disease): developed in collaboration with the Society of Cardiovascular Anesthesiologists: endorsed by the Society for Cardiovascular Angiography and Interventions and the Society of Thoracic Surgeons. Circulation 2006; 114: e84–e231.CrossRefGoogle Scholar
20.Bonamico, M, Pasquino, AM, Mariani, P, et al. Prevalence and clinical picture of celiac disease in Turner syndrome. J Clin Endocrinol Metab 2002; 87: 5495–5498.CrossRefGoogle ScholarPubMed
21.Hjerrild, BE, Mortensen, KH, Gravholt, CH. Turner syndrome and clinical treatment. Br Med Bull 2008; 86: 77–93.CrossRefGoogle ScholarPubMed
22.Hjerrild, BE, Mortensen, KH, Sørensen, KE, et al. Thoracic aortopathy in Turner syndrome and the influence of bicuspid aortic valves and blood pressure: a CMR study. J Cardiovasc Magn Res 2010 (Accepted).CrossRefGoogle ScholarPubMed
23.Fuentes, K, Silveira, DC, Papamitsakis, NI. Spontaneous carotid artery dissection in a patient with Turner syndrome. Cerebrovasc Dis 2007; 24: 543–544.CrossRefGoogle Scholar
24.Stochholm, K, Juul, S, Juel, K, Naeraa, RW, Gravholt, CH. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab 2006; 91: 3897–3902.CrossRefGoogle ScholarPubMed