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Loeys-Dietz syndrome
Tuesday 22 July 2008
Definition: The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement.
Patients assigned to Loeys-Dietz syndrome type 2 category (LDS2 ) have no cleft palate, craniosynostosis, or hypertelorism as seen in Loeys-Dietz syndrome type 1 (LDS1 ), although some have isolated bifid uvula.
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder resulting from genetic mutations in the transforming growth factor beta receptors 1 and 2 (TGFBR1 and TGFBR2 ).
The syndrome is characterized phenotypically by hypertelorism, bifid uvula, and/or cleft palate, and arterial tortuosity with aneurysms and dissections.
LDS has a much more rapid clinical course than Marfan syndrome (MFS) and thus those diagnosed with LDS are currently being recommended for prophylactic aortic root replacement at younger ages and with smaller aortic dimensions.
Synopsis
aortic root tissue
- increased medial collagen
- subtle but diffuse form of elastic fiber fragmentation and extracellular matrix deposition, referred to as diffuse medial degeneration .
- diffuse medial degeneration
The histologic findings of LDS are best appreciated with special stains to evaluate fibrosis and elastic fiber fragmentation.
Types
LDS1
LDS2
LDS3
Images
Aortic translamellar mucoid extracellular matrix accumulation (MEMA-T), seen with increased frequency in Marfan Syndrome or Loeys-Dietz syndrome
Etiology
germline mutations of TGFBR2 in Loeys-Dietz syndrome type 2 (LDS2B)(MIM.610380)
Open references
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome. Zimmermann MT, Urrutia RA, Blackburn PR, Cousin MA, Boczek NJ, Klee EW, Macmurdo C, Atwal PS. Case Rep Genet. 2017;2017:7263780. doi : 10.1155/2017/7263780
PMID: 28163941