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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: isra.valverde@kcl.ac.uk
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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

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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