Hostname: page-component-586b7cd67f-2brh9 Total loading time: 0 Render date: 2024-11-20T07:03:45.267Z Has data issue: false hasContentIssue false
  • English
  • Français

Magnetic resonance imaging findings in Loeys–Dietz syndrome

Published online by Cambridge University Press:  04 March 2010

Israel Valverde ,
John Simpson  and
Philipp Beerbaum
Israel Valverde*
Affiliation:
King’s College London, Division of Imaging Sciences, London, United Kingdom Evelina Children’s Hospital, Guy’s & St Thomas Foundation Trust, Paediatric Cardiology, London, United Kingdom
John Simpson
Affiliation:
Evelina Children’s Hospital, Guy’s & St Thomas Foundation Trust, Paediatric Cardiology, London, United Kingdom
Philipp Beerbaum
Affiliation:
King’s College London, Division of Imaging Sciences, London, United Kingdom Evelina Children’s Hospital, Guy’s & St Thomas Foundation Trust, Paediatric Cardiology, London, United Kingdom
*
Correspondence to: Israel Valverde, King’s College London, Division of Imaging Sciences, The Rayne Institute, 4th Floor, Lambeth Wing St Thomas Hospital, London, SE1 7EH, United Kingdom. Tel: +44 (0) 2071888385; Fax: +44 (0) 2071885442; E-mail: [email protected]
Get access Rights & Permissions [Opens in a new window]

Abstract

Loeys–Dietz syndrome is a newly described entity characterised by a constellation of arterial tortuosity, cranial malformations, and hypertelorism. We report a case of a 7-year old boy with confirmed Loeys–Dietz syndrome and discuss magnetic resonance imaging as a complete technique for assessment and follow-up of aggressive vascular pathology in the brain, thorax, and abdomen, which may dictate early surgical intervention.

Keywords

Aortic aneurysmaortic dissectionconnective tissue disorder
Type
Brief Reports
Information
Cardiology in the Young , Volume 20 , Issue 2 , April 2010 , pp. 210 - 213
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.Loeys, B, Chen, J, Neptune, E, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005; 37: 275–281.CrossRefGoogle ScholarPubMed
2.Loeys, B, Schwarze, U, Holm, T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006; 355: 788–798.CrossRefGoogle ScholarPubMed
3.Williams, JA, Loeys, B, Nwakanma, LU, et al. Early surgical experience with Loeys–Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg 2007; 83: S757–S763; discussion S785–S790.CrossRefGoogle ScholarPubMed
4.Snider, AR, Enderlein, MA, Teitel, DF, Juster, RP. Two-dimensional echocardiographic determination of aortic and pulmonary artery sizes from infancy to adulthood in normal subjects. Am J Cardiol 1984; 53: 218–224.CrossRefGoogle ScholarPubMed
5.Wong, K, Edwards, C, Armstrong, G, et al. Assessment of thoracic aortic dilation: Is echocardiography as good as magnetic resonance imaging? Heart, Lung and Circulation 2008; 17: S12.Google Scholar
6.Didier, D, Saint-Martin, C, Lapierre, C, et al. Coarctation of the aorta: pre and postoperative evaluation with MRI and MR angiography; correlation with echocardiography and surgery. Int J Cardiovasc Imaging 2006; 22: 457–475.CrossRefGoogle Scholar
7.Valsangiacomo Buchel, ER, DiBernardo, S, Bauersfeld, U, Berger, F. Contrast-enhanced magnetic resonance angiography of the great arteries in patients with congenital heart disease: an accurate tool for planning catheter-guided interventions. Int J Cardiovasc Imaging 2005; 21: 313–322.CrossRefGoogle ScholarPubMed
8.Kaiser, T, Kellenberger, CJ, Albisetti, M, Bergstrasser, E, Valsangiacomo Buechel, ER. Normal values for aortic diameters in children and adolescents – assessment in vivo by contrast-enhanced CMR-angiography. J Cardiovasc Magn Reson 2008; 10: 56.CrossRefGoogle ScholarPubMed
9.Johnson, PT, Chen, JK, Loeys, B, Dietz, H, Fishman, EK. Loeys–Dietz syndrome: MDCT angiography findings. Am J Roentgenol 2007; 189: W29–W35.CrossRefGoogle ScholarPubMed
10.Rodrigues, VJ, Elsayed, S, Loeys, BL, Dietz, HC, Yousem, DM. Neuroradiologic manifestations of Loeys-Dietz syndrome type 1. Am J Neuroradiol 2009.CrossRefGoogle ScholarPubMed