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Loeys-Dietz Syndrome

  • Lut Van Laer
  • Harry Dietz
  • Bart Loeys
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 802)

Abstract

Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid uvula or cleft palate and aortic aneurysm with tortuosity. Natural history is significant for aortic dissection at smaller aortic diameter and arterial aneurysms throughout the arterial tree. The genetic cause is heterogeneous and includes mutations in genes encoding for components of the transforming growth factor beta (TGFβ) signalling pathway: TGFBR1, TGFBR2, SMAD3 and TGFB2. Despite the loss of function nature of these mutations, the patient-derived aortic tissues show evidence of increased (rather than decreased) TGFβ signalling. These insights offer new options for therapeutic interventions.

Keywords

Loeys-Dietz syndrome Hypertelorism Aortic aneurysm with tortuosity Aortic dissection Mutations in TGFBR1 TGFBR2 SMAD3 or TGFB2 Increased TGFβ signalling Overlap with Marfan and Ehlers-Danlos syndrome 

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Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  1. 1.Center for Medical Genetics, Faculty of Medicine and Health SciencesAntwerp University Hospital/University of AntwerpAntwerpBelgium
  2. 2.McKusick-Nahtans Institute of Genetic MedicineJohns Hopkins University School of MedicineBaltimoreUSA

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