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          Institute: MPI für molekulare Genetik     Collection: Research Group Development and Disease     Display Documents



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ID: 541903.0, MPI für molekulare Genetik / Research Group Development and Disease
Marfan syndrome and the evolving spectrum of heritable thoracic aortic disease: do we need genetics for clinical decisions?
Authors:von Kodolitsch, Y.; Rybczynski, M.; Bernhardt, A.; Mir, T. S.; Treede, H.; Dodge-Khatami, A.; Robinson, P. N.; Sheikhzadeh, S.; Reichenspurner, H.; Meinertz, T.
Language:English
Date of Publication (YYYY-MM-DD):2010-02-01
Title of Journal:European Journal for Vascular Medicine
Journal Abbrev.:Vasa
Volume:39
Issue / Number:1
Start Page:17
End Page:32
Copyright:© Verlag Hans Huber, Bern
Review Status:not specified
Audience:Experts Only
Abstract / Description:Marfan syndrome (MFS) is a disorder of the connective tissue that is inherited in an autosomal dominant fashion and that is classically caused by mutations in the gene coding for fibrillin-1, FBN1. The high mortality of untreated MFS results almost exclusively from aortic complications such as aortic dissection and rupture. However, more than half of patients with Marfan-like features do not have MFS, but have other diseases including inherited aortic aneurysms and dissections (TAAD). We elucidate the increasing spectrum of syndromes associated with Marfan-like features and discuss the clinical implications of these diseases. We performed a systematic review to tabulate all known inherited diseases and syndromes carrying a risk for thoracic aortic disease. We discuss evidence that different syndromes with different causative genes and mutations have different prognoses and profiles of cardiovascular manifestations. We conclude that future decisions for optimized management of patients with inherited TAAD require a comprehensive clinical and genetic work-up.
Free Keywords:bicuspid aortic valve
FBN1
Loeys-Dietz syndrome
Marfan syndrome
NOTCH1
TGFBR1
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Centre of Cardiology, University Hospital Eppendorf, Hamburg, Germany;
2.Centre of Cardiovascular Surgery, University Hospital Eppendorf, Hamburg, Germany;
3.Centre of Cardiology Pediatric Cardiology and Cardiovascular Surgery, University Hospital Eppendorf, Hamburg, Germany;
4.Institute of Medical Genetics, Charité Universitätsmedizin, Berlin, Germany.
Identifiers:ISSN:0301-1526 [ID No:1]
URL:http://www.ncbi.nlm.nih.gov/pubmed/20186673 [ID No:2]
DOI:10.1024/0301-1526/a000002 [ID No:3]
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