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

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Abstract

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.

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Acknowledgement

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

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Authors and Affiliations

  1. Department of Diagnostic Radiology, Yale-New Haven Medical Center, Box 208042, Tompkins East 2, 333 Cedar St., New Haven, CT, 06520-8042, USA

    Vivek B. Kalra, John W. Gilbert & Ajay Malhotra

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  1. Vivek B. Kalra
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  2. John W. Gilbert
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  3. Ajay Malhotra
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Correspondence to John W. Gilbert.

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Kalra, V.B., Gilbert, J.W. & Malhotra, A. Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings. Pediatr Radiol 41, 1495–1504 (2011). https://doi.org/10.1007/s00247-011-2195-z

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  • DOI: https://doi.org/10.1007/s00247-011-2195-z

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