Pediatric Radiology

, Volume 41, Issue 12, pp 1495–1504 | Cite as

Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings

  • Vivek B. Kalra
  • John W. GilbertEmail author
  • Ajay Malhotra


Loeys-Dietz syndrome (LDS) is an increasingly recognized autosomal-dominant connective tissue disorder with distinctive radiological manifestations, including arterial tortuosity/aneurysms, craniofacial malformations and skeletal abnormalities. LDS exhibits a more aggressive course than similar disorders, such as Marfan or the vascular subtype of Ehlers-Danlos syndrome, with morbidity and mortality typically resulting from complications of aortic/arterial dissections. Early diagnosis, short-interval follow-up imaging and prophylactic surgical intervention are essential in preventing catastrophic cardiovascular complications. This review focuses on the cardiovascular, neuroradiological and musculoskeletal imaging findings in this disorder and recommendations for follow-up imaging.


Loeys-Dietz syndrome Transforming growth factor beta Genetic disorders Connective tissue disorders Children 



We would like to thank Catherine Camputaro for her assistance with the 3-D reconstructions.


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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Vivek B. Kalra
    • 1
  • John W. Gilbert
    • 1
    Email author
  • Ajay Malhotra
    • 1
  1. 1.Department of Diagnostic RadiologyYale-New Haven Medical CenterNew HavenUSA

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