Loeys-dietz syndrome

Lut Van Laer, Harry Dietz, Bart Loeys

Research output: Chapter in Book/Report/Conference proceedingChapter

54 Scopus citations


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.

Original languageEnglish (US)
Title of host publicationProgress in Heritable Soft Connective Tissue Diseases
PublisherSpringer New York LLC
Number of pages11
ISBN (Print)9789400778924
StatePublished - 2014

Publication series

NameAdvances in Experimental Medicine and Biology
ISSN (Print)0065-2598


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

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


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