Journal
PEDIATRIC RADIOLOGY
Volume 41, Issue 12, Pages 1495-1504Publisher
SPRINGER
DOI: 10.1007/s00247-011-2195-z
Keywords
Loeys-Dietz syndrome; Transforming growth factor beta; Genetic disorders; Connective tissue disorders; Children
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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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