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

Pediatr Radiol. 2011 Dec;41(12):1495-504; quiz 1616. doi: 10.1007/s00247-011-2195-z. Epub 2011 Jul 23.

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.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Bone Diseases / diagnosis*
  • Diagnostic Imaging / methods*
  • Humans
  • Joint Diseases / diagnosis*
  • Loeys-Dietz Syndrome / diagnosis*
  • Nervous System Diseases / diagnosis*