Hostname: page-component-586b7cd67f-l7hp2 Total loading time: 0 Render date: 2024-11-26T17:04:02.289Z Has data issue: false hasContentIssue false
  • English
  • Français

Multimodality cardiac imaging in Turner syndrome

Published online by Cambridge University Press:  04 February 2016

Kristian H. Mortensen ,
Deepa Gopalan ,
Bjarne L. Nørgaard ,
Niels H. Andersen  and
Claus H. Gravholt
Kristian H. Mortensen*
Affiliation:
Department of Radiology, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom
Deepa Gopalan
Affiliation:
Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom
Bjarne L. Nørgaard
Affiliation:
Department of Cardiology, Aarhus University Hospital, Aarhus University Hospital, Aarhus, Denmark
Niels H. Andersen
Affiliation:
Department of Cardiology, Aarhus University Hospital, Aarhus University Hospital, Aarhus, Denmark
Claus H. Gravholt
Affiliation:
Department of Endocrinology and Internal Medicine & Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
*
Correspondence to: Dr K. H. Mortensen, PhD, Department of Radiology, School of Clinical Medicine, Cambridge University and Cambridge University Hospitals NHS Foundation Trust, Box 218, Hills Road, Cambridge CB2 0QQ, United Kingdom. Tel: +44 0 1223 336890; Fax: +44 0 1223 330915; E-mail: [email protected]
Get access Rights & Permissions [Opens in a new window]

Abstract

Congenital and acquired cardiovascular diseases contribute significantly to the threefold elevated risk of premature death in Turner syndrome. A multitude of cardiovascular anomalies and disorders, many of which deleteriously impact morbidity and mortality, is frequently left undetected and untreated because of poor adherence to screening programmes and complex clinical presentations. Imaging is essential for timely and effective primary and secondary disease prophylaxis that may alleviate the severe impact of cardiovascular disease in Turner syndrome. This review illustrates how cardiovascular disease in Turner syndrome manifests in a complex manner that ranges in severity from incidental findings to potentially fatal anomalies. Recommendations regarding the use of imaging for screening and surveillance of cardiovascular disease in Turner syndrome are made, emphasising the key role of non-invasive and invasive cardiovascular imaging to the management of all patients with Turner syndrome.

Keywords

Cardiovascular MRIechocardiographyCTCHDTurner syndrome
Type
Review Articles
Information
Cardiology in the Young , Volume 26 , Issue 5 , June 2016 , pp. 831 - 841
Check for updates
Copyright
© Cambridge University Press 2016 

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. Mortensen, KH, Andersen, NH, Gravholt, CH. Cardiovascular phenotype in turner syndrome–integrating cardiology, genetics, and endocrinology. Endocr Rev 2012; 33: 677–714.CrossRefGoogle ScholarPubMed
2. Bondy, C, Bakalov, VK, Lange, ED, Ceniceros, I. Deficient medical care for adults with the Turner syndrome. Ann Intern Med 2006; 145: 866–867.Google Scholar
3. Bondy, CA. Care of girls and women with Turner syndrome: a guideline of the turner syndrome study group. J Clin Endocrinol Metab 2007; 92: 10–25.Google Scholar
4. Freriks, K, Timmermans, J, Beerendonk, CC, et al. Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome. J Clin Endocrinol Metab 2011; 96: E1517–E1526.CrossRefGoogle ScholarPubMed
5. 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.Google Scholar
6. Cramer, JW, Bartz, PJ, Simpson, PM, Zangwill, SD. The spectrum of congenital heart disease and outcomes after surgical repair among children with Turner syndrome: a single-center review. Pediatr Cardiol 2014; 35: 253–260.Google Scholar
7. Madriago, E, Nguyen, T, McFerson, M, et al. Frequency and outcomes of cardiac operations and catheter interventions in Turner syndrome. Am J Cardiol 2012; 110: 580–585.Google Scholar
8. Patel, A, Hickey, E, Mavroudis, C, et al. Impact of noncardiac congenital and genetic abnormalities on outcomes in hypoplastic left heart syndrome. Ann Thorac Surg 2010; 89: 1805–1813; discussion 1813–1814.CrossRefGoogle ScholarPubMed
9. Mortensen, KH, Hjerrild, BE, Andersen, NH, et al. Abnormalities of the major intrathoracic arteries in Turner syndrome as revealed by magnetic resonance imaging. Cardiol Young 2010; 20: 191–200.Google Scholar
10. Sachdev, V, Matura, LA, Sidenko, S, et al. Aortic valve disease in Turner syndrome. J Am Coll Cardiol 2008; 51: 1904–1909.Google Scholar
11. Olivieri, LJ, Baba, RY, Arai, AE, et al. Spectrum of aortic valve abnormalities associated with aortic dilation across age groups in Turner syndrome. Circ Cardiovasc Imaging 2013; 6: 1018–1023.CrossRefGoogle ScholarPubMed
12. Mortensen, KH, Hjerrild, BE, Stochholm, K, et al. Dilation of the ascending aorta in Turner syndrome – a prospective cardiovascular magnetic resonance study. J Cardiovasc Magn Reson 2011; 13: 24.Google Scholar
13. Baumgartner, H, Bonhoeffer, P, De Groot, NM, et al. ESC Guidelines for the management of grown-up congenital heart disease (new version 2010). Eur Heart J 2010; 31: 2915–2957.Google Scholar
14. Nordmeyer, J, Gaudin, R, Tann, OR, et al. MRI may be sufficient for noninvasive assessment of great vessel stents: an in vitro comparison of MRI, CT, and conventional angiography. AJR Am J Roentgenol 2010; 195: 865–871.Google Scholar
15. Ho, VB, Bakalov, VK, Cooley, M, et al. Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic features. Circulation 2004; 110: 1694–1700.Google Scholar
16. De Groote, K, Devos, D, Van Herck, K, et al. Abnormal aortic arch morphology in Turner syndrome patients is a risk factor for hypertension. Heart Vessels 2015; 30: 618–625.CrossRefGoogle ScholarPubMed
17. Gravholt, CH, Landin-Wilhelmsen, K, Stochholm, K, et al. Clinical and epidemiological description of aortic dissection in Turner’s syndrome. Cardiol Young 2006; 16: 430–436.CrossRefGoogle ScholarPubMed
18. Bondy, CA. Aortic dissection in Turner syndrome. Curr Opin Cardiol 2008; 23: 519–526.Google Scholar
19. 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.Google Scholar
20. Matura, LA, Ho, VB, Rosing, DR, Bondy, CA. Aortic dilatation and dissection in Turner syndrome. Circulation 2007; 116: 1663–1670.Google Scholar
21. Erbel, R, Aboyans, V, Boileau, C, et al. ESC Guidelines on the diagnosis and treatment of aortic diseases: document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). Eur Heart J 2014; 35: 2873–2926.Google Scholar
22. Lu, TL, Rizzo, E, Marques-Vidal, PM, et al. Variability of ascending aorta diameter measurements as assessed with electrocardiography-gated multidetector computerized tomography and computer assisted diagnosis software. Interact Cardiovasc Thorac Surg 2010; 10: 217–221.Google Scholar
23. Groth, M, Henes, FO, Mullerleile, K, et al. Accuracy of thoracic aortic measurements assessed by contrast enhanced and unenhanced magnetic resonance imaging. Eur J Radiol 2011; 81: 762–766.Google Scholar
24. Mortensen, KH, Erlandsen, M, Andersen, NH, Gravholt, CH. Prediction of aortic dilation in Turner syndrome – enhancing the use of serial cardiovascular magnetic resonance. J Cardiovasc Magn Reson 2013; 15: 47.Google Scholar
25. Baguet, JP, Douchin, S, Pierre, H, et al. Structural and functional abnormalities of large arteries in the Turner syndrome. Heart 2005; 91: 1442–1446.CrossRefGoogle ScholarPubMed
26. Mortensen, KH, Gravholt, CH, Hjerrild, BE, Stochholm, K, Andersen, NH. Left ventricular hypertrophy in turner syndrome: a prospective echocardiographic study. Echocardiography 2012; 29: 1022–1030.Google Scholar
27. Trolle, C, Hjerrild, B, Mortensen, KH, et al. Low myocardial glucose uptake in Turner syndrome is unaffected by growth hormone: a randomized, placebo-controlled FDG-PET study. Clin Endocrinol (Oxf) 2015; 83: 133–140.Google Scholar
28. Andersen, NH, Hjerrild, BE, Sorensen, K, et al. Subclinical left ventricular dysfunction in normotensive women with Turner’s syndrome. Heart 2006; 92: 1516–1517.Google Scholar
29. Ostberg, JE, Brookes, JA, McCarthy, C, Halcox, J, Conway, GS. A comparison of echocardiography and magnetic resonance imaging in cardiovascular screening of adults with Turner syndrome. J Clin Endocrinol Metab 2004; 89: 5966–5971.CrossRefGoogle ScholarPubMed
30. Lanzarini, L, Larizza, D, Prete, G, et al. Aortic dimensions in Turner's syndrome: two-dimensional echocardiography versus magnetic resonance imaging. J Cardiovasc Med (Hagerstown) 2007; 8: 428–437.CrossRefGoogle ScholarPubMed
31. Hjerrild, BE, Mortensen, KH, Sorensen, KE, et al. Thoracic aortopathy in Turner syndrome and the influence of bicuspid aortic valves and blood pressure: a CMR study. J Cardiovasc Magn Reson 2010; 12: 12.Google Scholar