| Marfan syndrome. Part 1: pathophysiology and diagnosis. | |
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MedLine Citation:
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PMID: 20351703 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Marfan syndrome is a connective-tissue disease inherited in an autosomal dominant manner and caused mainly by mutations in the gene FBN1. This gene encodes fibrillin-1, a glycoprotein that is the main constituent of the microfibrils of the extracellular matrix. Most mutations are unique and affect a single amino acid of the protein. Reduced or abnormal fibrillin-1 leads to tissue weakness, increased transforming growth factor beta signaling, loss of cell-matrix interactions, and, finally, to the different phenotypic manifestations of Marfan syndrome. Since the description of FBN1 as the gene affected in patients with this disorder, great advances have been made in the understanding of its pathogenesis. The development of several mouse models has also been crucial to our increased understanding of this disease, which is likely to change the treatment and the prognosis of patients in the coming years. Among the many different clinical manifestations of Marfan syndrome, cardiovascular involvement deserves special consideration, owing to its impact on prognosis. However, the diagnosis of patients with Marfan syndrome should be made according to Ghent criteria and requires a comprehensive clinical assessment of multiple organ systems. Genetic testing can be useful in the diagnosis of selected cases. |
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Authors:
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Victoria Cañadas; Isidre Vilacosta; Isidoro Bruna; Valentin Fuster |
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Publication Detail:
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Type: Journal Article; Review Date: 2010-03-30 |
Journal Detail:
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Title: Nature reviews. Cardiology Volume: 7 ISSN: 1759-5010 ISO Abbreviation: Nat Rev Cardiol Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-04-26 Completed Date: 2010-07-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101500075 Medline TA: Nat Rev Cardiol Country: England |
Other Details:
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Languages: eng Pagination: 256-65 Citation Subset: IM |
Affiliation:
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Instituto Cardiovascular, Hospital Clínico San Carlos, C/Profesor Martín Lagos, sn, 28024 Madrid, Spain. victoria_canadasgodoy@yahoo.es |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Aortic Aneurysm, Thoracic / genetics*, physiopathology, radiography Cardiovascular Diseases / diagnosis, genetics, physiopathology Contractile Proteins / genetics*, metabolism Disease Models, Animal Extracellular Matrix Proteins / genetics*, metabolism Female Genetic Predisposition to Disease / epidemiology* Genetic Testing Humans Male Marfan Syndrome / diagnosis, genetics*, physiopathology Mice Microfilament Proteins / genetics*, metabolism Prognosis Risk Assessment Survival Rate |
| Chemical | |
Reg. No./Substance:
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0/Contractile Proteins; 0/Extracellular Matrix Proteins; 0/Microfilament Proteins; 0/fibrillin; 0/microfibrillar protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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