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Loeys-Dietz Syndrome

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Book cover Progress in Heritable Soft Connective Tissue Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((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.

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Author information

Authors and Affiliations

  1. Center for Medical Genetics, Faculty of Medicine and Health Sciences, Antwerp University Hospital/University of Antwerp, Prins Boudewijnlaan 43, 2650, Antwerp, Belgium

    Lut Van Laer Ph.D. & Bart Loeys M.D., Ph.D.

  2. McKusick-Nahtans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Harry Dietz M.D.

Authors
  1. Lut Van Laer Ph.D.
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  2. Harry Dietz M.D.
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  3. Bart Loeys M.D., Ph.D.
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Corresponding author

Correspondence to Bart Loeys M.D., Ph.D. .

Editor information

Editors and Affiliations

  1. Department of Pathology, The University of Georgia, Athens, Georgia, USA

    Jaroslava Halper

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Van Laer, L., Dietz, H., Loeys, B. (2014). Loeys-Dietz Syndrome. In: Halper, J. (eds) Progress in Heritable Soft Connective Tissue Diseases. Advances in Experimental Medicine and Biology, vol 802. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-7893-1_7

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