| Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2. | |
| | |
MedLine Citation:
|
PMID: 20662850 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
|
Mutations in the genes FBN1, TGFBR1, and TGFBR2 can result in heritable connective tissue disorders comprising the Marfan syndrome and the Loeys-Dietz syndrome. Dural ectasia is a characteristic manifestation of both syndromes. However, dural ectasia has not yet been investigated in connective tissue disorders that are unrelated to mutations in the FBN1, TGFBR1 or TGFBR2 genes. Here, we assessed dural ectasia in 33 individuals both with typical manifestations of heritable connective tissue disease and in whom mutations in all three genes had been excluded. We identified 19 individuals with dural ectasia (58%), who exhibited major skeletal manifestations of the Marfan syndrome more frequently than the remaining 14 persons without dural ectasia (p = 0.06). Moreover, only persons with dural ectasia fulfilled clinical criteria of the Marfan syndrome (p = 0.01). Conversely, aortic aneurysm (12 patients; p = 0.8), aortic dissection (five patients; p = 0.1), spontaneous dissection of the carotid arteries (five patients; p = 1), and mitral valve prolapse (13 patients; p = 0.4) were similarly frequent irrespective of dural ectasia. We conclude that dural ectasia is a marker for connective tissue disease which coincides with skeletal rather than with cardiovascular manifestations, and which may involve currently uncharacterized pathogenetic mechanisms and syndromes. |
| | |
Authors:
|
S Sheikhzadeh; M Rybczynski; C R Habermann; A M J Bernhardt; M Arslan-Kirchner; B Keyser; H Kaemmerer; T S Mir; A Staebler; N Oezdal; P N Robinson; J Berger; T Meinertz; Y von Kodolitsch |
Publication Detail:
|
Type: Journal Article |
Journal Detail:
|
Title: Clinical genetics Volume: 79 ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2011 Jun |
Date Detail:
|
Created Date: 2011-05-05 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
|
Languages: eng Pagination: 568-74 Citation Subset: IM |
Copyright Information:
|
© 2010 John Wiley & Sons A/S. |
Affiliation:
|
Centre of Cardiology and Cardiovascular Surgery, University Hospital Eppendorf, Hamburg, Germany. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development.
Next Document: Novel mutations in the HPS1 gene among Puerto Rican patients.