Arman Yaghoubian MD, Presenter: Nothing to Disclose

Daniel Sheeran MD, Abstract Co-Author: Nothing to Disclose

Patrick T. Norton MD, Abstract Co-Author: Nothing to Disclose

Klaus D. Hagspiel MD, Abstract Co-Author: Research Grant, Siemens AG

1. To review the imaging spectrum of vascular findings in patients with EDS type IV, Marfan and Loeys-Dietz Syndromes. 2. To review the basic genetics and pathophysiology behind EDS type IV, Marfan and Loeys-Dietz Syndromes.  

Ehlers-Danlos Syndrome type IV (EDS type IV)  - Autosomal dominant inheritance caused by a number of identified mutations within the COL3A1. - Multiple arterial aneurysms (especially visceral aneurysms), short segment dissections, vessel occlusion, arteriovenous fistula and/or frank rupture. Marfan Syndrome  - Autosomal dominant inheritance caused by a number of identified mutations within the FBN1 gene. - Common involvement of the aortic root with annuloaortic ectasia and aortic dissection.  Loeys-Dietz Syndrome (LDS) - Autosomal dominant inheritance caused by mutations of the TGF-β receptor genes. - Clinical course is more aggressive than EDS type IV and Marfan syndrome with earlier presentation and considerably worse survival though there is phenotypic overlap between the syndromes. - Almost all patients (>98%) will have aortic root aneurysms and aortic dissection is the leading cause of death. - Distant arterial aneurysms and tortuosity.  - Distinguishing features including hypertelorism, cervical instability, craniosynostosis, and Chiari malformation.

http://abstract.rsna.org/uploads/2014/14015154/14015154_3ixo.pdf

Yaghoubian, A, Sheeran, D, Norton, P, Hagspiel, K, Vascular Findings in Ehlers Danlos, Marfan and Loeys Dietz Syndrome: A Pictorial Review.  Radiological Society of North America 2014 Scientific Assembly and Annual Meeting, - ,Chicago IL. http://archive.rsna.org/2014/14015154.html