Title
Loeys-Dietz syndrome Loeys-Dietz syndrome
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
New York, N.Y. ,
Subject
Biology
Human medicine
Source (journal)
Advances in experimental medicine and biology. - New York, N.Y.
Volume/pages
802(2014) , p. 95-105
ISSN
0065-2598
ISI
000339357300007
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
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 (TGF beta) 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) TGF beta signalling. These insights offer new options for therapeutic interventions.
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