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Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation
The purpose of this study was to perform a comprehensive study of dural ectasia (DE) related to FBN1 mutations. We performed a database analysis of two German metropolitan regions of 150 patients (68 men, 82 women; mean age 35 ± 16 years). All patients had a FBN1 mutation and underwent dural magneti...
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| Published in: | Clinical genetics 2014-09, Vol.86 (3), p.238-245 |
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| container_issue | 3 |
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| container_title | Clinical genetics |
| container_volume | 86 |
| creator | Sheikhzadeh, S. Sondermann, C. Rybczynski, M. Habermann, C.R. Brockstaedt, L. Keyser, B. Kaemmerer, H. Mir, T. Staebler, A. Robinson, P.N. Kutsche, K. Berger, J. Blankenberg, S. von Kodolitsch, Y. |
| description | The purpose of this study was to perform a comprehensive study of dural ectasia (DE) related to FBN1 mutations. We performed a database analysis of two German metropolitan regions of 150 patients (68 men, 82 women; mean age 35 ± 16 years). All patients had a FBN1 mutation and underwent dural magnetic resonance imaging. Age was 35 in 36 patients. Prevalence of dural ectasia was 89% with criteria of Oosterhof and Habermann, 83% with Fattori, 78% with Lundby, and 59% with Ahn. DE was less frequent in patients |
| doi_str_mv | 10.1111/cge.12264 |
| format | article |
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We performed a database analysis of two German metropolitan regions of 150 patients (68 men, 82 women; mean age 35 ± 16 years). All patients had a FBN1 mutation and underwent dural magnetic resonance imaging. Age was <16 years in 20, 16–25 in 27, 26–35 in 67, and >35 in 36 patients. Prevalence of dural ectasia was 89% with criteria of Oosterhof and Habermann, 83% with Fattori, 78% with Lundby, and 59% with Ahn. DE was less frequent in patients <16 years with Ahn and Fattori. DE related to skeletal manifestations with all criteria, to aortic Z‐scores and mitral valve prolapse with criteria of Habermann and Lundby, and to age with criteria of Fattori. The Fattori‐grade of DE increased with age, aortic Z‐scores, and skeletal score points. There was no consistent relationship of DE with any type of FBN1 mutation. DE is frequent in patients with FBN1 mutations irrespective of age and its severity increases during life. Criteria of Oosterhof and Habermann yielded most consistent diagnostic results. DE relates to skeletal involvement, aortic Z‐scores, and mitral valve prolapse.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/cge.12264</identifier><identifier>PMID: 23991918</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adult ; Age Factors ; Aorta - pathology ; Dilatation, Pathologic - epidemiology ; Dilatation, Pathologic - genetics ; Dilatation, Pathologic - pathology ; Dura Mater - pathology ; dural ; ectasia ; FBN1 ; Female ; Fibrillin-1 ; Fibrillins ; Genetic disorders ; Germany - epidemiology ; Humans ; Logistic Models ; Magnetic Resonance Imaging ; Male ; Marfan syndrome ; Microfilament Proteins - genetics ; Middle Aged ; Mitral Valve Prolapse - pathology ; Mutation ; Mutation - genetics ; Odds Ratio ; Phenotype ; Prevalence ; Statistics, Nonparametric</subject><ispartof>Clinical genetics, 2014-09, Vol.86 (3), p.238-245</ispartof><rights>2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd</rights><rights>2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.</rights><rights>2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4944-9c3e31b42b2193790e1d0162e20c7935e531a541cb7063c63a9e0076d20940693</citedby><cites>FETCH-LOGICAL-c4944-9c3e31b42b2193790e1d0162e20c7935e531a541cb7063c63a9e0076d20940693</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23991918$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sheikhzadeh, S.</creatorcontrib><creatorcontrib>Sondermann, C.</creatorcontrib><creatorcontrib>Rybczynski, M.</creatorcontrib><creatorcontrib>Habermann, C.R.</creatorcontrib><creatorcontrib>Brockstaedt, L.</creatorcontrib><creatorcontrib>Keyser, B.</creatorcontrib><creatorcontrib>Kaemmerer, H.</creatorcontrib><creatorcontrib>Mir, T.</creatorcontrib><creatorcontrib>Staebler, A.</creatorcontrib><creatorcontrib>Robinson, P.N.</creatorcontrib><creatorcontrib>Kutsche, K.</creatorcontrib><creatorcontrib>Berger, J.</creatorcontrib><creatorcontrib>Blankenberg, S.</creatorcontrib><creatorcontrib>von Kodolitsch, Y.</creatorcontrib><title>Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation</title><title>Clinical genetics</title><addtitle>Clin Genet</addtitle><description>The purpose of this study was to perform a comprehensive study of dural ectasia (DE) related to FBN1 mutations. We performed a database analysis of two German metropolitan regions of 150 patients (68 men, 82 women; mean age 35 ± 16 years). All patients had a FBN1 mutation and underwent dural magnetic resonance imaging. Age was <16 years in 20, 16–25 in 27, 26–35 in 67, and >35 in 36 patients. Prevalence of dural ectasia was 89% with criteria of Oosterhof and Habermann, 83% with Fattori, 78% with Lundby, and 59% with Ahn. DE was less frequent in patients <16 years with Ahn and Fattori. DE related to skeletal manifestations with all criteria, to aortic Z‐scores and mitral valve prolapse with criteria of Habermann and Lundby, and to age with criteria of Fattori. The Fattori‐grade of DE increased with age, aortic Z‐scores, and skeletal score points. There was no consistent relationship of DE with any type of FBN1 mutation. DE is frequent in patients with FBN1 mutations irrespective of age and its severity increases during life. Criteria of Oosterhof and Habermann yielded most consistent diagnostic results. DE relates to skeletal involvement, aortic Z‐scores, and mitral valve prolapse.</description><subject>Adult</subject><subject>Age Factors</subject><subject>Aorta - pathology</subject><subject>Dilatation, Pathologic - epidemiology</subject><subject>Dilatation, Pathologic - genetics</subject><subject>Dilatation, Pathologic - pathology</subject><subject>Dura Mater - pathology</subject><subject>dural</subject><subject>ectasia</subject><subject>FBN1</subject><subject>Female</subject><subject>Fibrillin-1</subject><subject>Fibrillins</subject><subject>Genetic disorders</subject><subject>Germany - epidemiology</subject><subject>Humans</subject><subject>Logistic Models</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Marfan syndrome</subject><subject>Microfilament Proteins - genetics</subject><subject>Middle Aged</subject><subject>Mitral Valve Prolapse - pathology</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Odds Ratio</subject><subject>Phenotype</subject><subject>Prevalence</subject><subject>Statistics, Nonparametric</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><recordid>eNqNkc1OWzEQha2qCFJg0ReoLHVDFxc8_o2XJUBKhWBDS3eW40zAcH-CfW9p3r6GAItKlfBmNNZ3zmI-Qj4C24fyDsI17gPnWr4jIxDWVowx-Z6MyrCVBS22yIecb8sqjLKbZIsXCCyMR-TnpGuWCW-wzfE3Ut_6epVjpt2Czofka4qh9zl6GlsKitGl7yO2faYPsb-hngY_5PJVoieH50CboS9b1-6QjYWvM-4-z23y4-T4cvKtOruYnk6-nlVBWikrGwQKmEk-42CFsQxhzkBz5CwYKxQqAV5JCDPDtAhaeIuMGT3nzEqmrdgme-veZeruB8y9a2IOWNe-xW7IDozRWtoxfwOqlNKcGcYL-vkf9LYbUjnNEyXN2KrxI_VlTYXU5Zxw4ZYpNj6tHDD36MUVL-7JS2E_PTcOswbnr-SLiAIcrIGHWOPq_01uMj1-qazWiZh7_POa8OnOaVM8u6vzqTv8zq7E0S9wQvwFbZahsA</recordid><startdate>201409</startdate><enddate>201409</enddate><creator>Sheikhzadeh, S.</creator><creator>Sondermann, C.</creator><creator>Rybczynski, M.</creator><creator>Habermann, C.R.</creator><creator>Brockstaedt, L.</creator><creator>Keyser, B.</creator><creator>Kaemmerer, H.</creator><creator>Mir, T.</creator><creator>Staebler, A.</creator><creator>Robinson, P.N.</creator><creator>Kutsche, K.</creator><creator>Berger, J.</creator><creator>Blankenberg, S.</creator><creator>von Kodolitsch, Y.</creator><general>Blackwell Publishing Ltd</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201409</creationdate><title>Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation</title><author>Sheikhzadeh, S. ; Sondermann, C. ; Rybczynski, M. ; Habermann, C.R. ; Brockstaedt, L. ; Keyser, B. ; Kaemmerer, H. ; Mir, T. ; Staebler, A. ; Robinson, P.N. ; Kutsche, K. ; Berger, J. ; Blankenberg, S. ; von Kodolitsch, Y.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4944-9c3e31b42b2193790e1d0162e20c7935e531a541cb7063c63a9e0076d20940693</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adult</topic><topic>Age Factors</topic><topic>Aorta - pathology</topic><topic>Dilatation, Pathologic - epidemiology</topic><topic>Dilatation, Pathologic - genetics</topic><topic>Dilatation, Pathologic - pathology</topic><topic>Dura Mater - pathology</topic><topic>dural</topic><topic>ectasia</topic><topic>FBN1</topic><topic>Female</topic><topic>Fibrillin-1</topic><topic>Fibrillins</topic><topic>Genetic disorders</topic><topic>Germany - epidemiology</topic><topic>Humans</topic><topic>Logistic Models</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Marfan syndrome</topic><topic>Microfilament Proteins - genetics</topic><topic>Middle Aged</topic><topic>Mitral Valve Prolapse - pathology</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Odds Ratio</topic><topic>Phenotype</topic><topic>Prevalence</topic><topic>Statistics, Nonparametric</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sheikhzadeh, S.</creatorcontrib><creatorcontrib>Sondermann, C.</creatorcontrib><creatorcontrib>Rybczynski, M.</creatorcontrib><creatorcontrib>Habermann, C.R.</creatorcontrib><creatorcontrib>Brockstaedt, L.</creatorcontrib><creatorcontrib>Keyser, B.</creatorcontrib><creatorcontrib>Kaemmerer, H.</creatorcontrib><creatorcontrib>Mir, T.</creatorcontrib><creatorcontrib>Staebler, A.</creatorcontrib><creatorcontrib>Robinson, P.N.</creatorcontrib><creatorcontrib>Kutsche, K.</creatorcontrib><creatorcontrib>Berger, J.</creatorcontrib><creatorcontrib>Blankenberg, S.</creatorcontrib><creatorcontrib>von Kodolitsch, Y.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sheikhzadeh, S.</au><au>Sondermann, C.</au><au>Rybczynski, M.</au><au>Habermann, C.R.</au><au>Brockstaedt, L.</au><au>Keyser, B.</au><au>Kaemmerer, H.</au><au>Mir, T.</au><au>Staebler, A.</au><au>Robinson, P.N.</au><au>Kutsche, K.</au><au>Berger, J.</au><au>Blankenberg, S.</au><au>von Kodolitsch, Y.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2014-09</date><risdate>2014</risdate><volume>86</volume><issue>3</issue><spage>238</spage><epage>245</epage><pages>238-245</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><abstract>The purpose of this study was to perform a comprehensive study of dural ectasia (DE) related to FBN1 mutations. We performed a database analysis of two German metropolitan regions of 150 patients (68 men, 82 women; mean age 35 ± 16 years). All patients had a FBN1 mutation and underwent dural magnetic resonance imaging. Age was <16 years in 20, 16–25 in 27, 26–35 in 67, and >35 in 36 patients. Prevalence of dural ectasia was 89% with criteria of Oosterhof and Habermann, 83% with Fattori, 78% with Lundby, and 59% with Ahn. DE was less frequent in patients <16 years with Ahn and Fattori. DE related to skeletal manifestations with all criteria, to aortic Z‐scores and mitral valve prolapse with criteria of Habermann and Lundby, and to age with criteria of Fattori. The Fattori‐grade of DE increased with age, aortic Z‐scores, and skeletal score points. There was no consistent relationship of DE with any type of FBN1 mutation. DE is frequent in patients with FBN1 mutations irrespective of age and its severity increases during life. Criteria of Oosterhof and Habermann yielded most consistent diagnostic results. DE relates to skeletal involvement, aortic Z‐scores, and mitral valve prolapse.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>23991918</pmid><doi>10.1111/cge.12264</doi><tpages>8</tpages></addata></record> |
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| ispartof | Clinical genetics, 2014-09, Vol.86 (3), p.238-245 |
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| subjects | Adult Age Factors Aorta - pathology Dilatation, Pathologic - epidemiology Dilatation, Pathologic - genetics Dilatation, Pathologic - pathology Dura Mater - pathology dural ectasia FBN1 Female Fibrillin-1 Fibrillins Genetic disorders Germany - epidemiology Humans Logistic Models Magnetic Resonance Imaging Male Marfan syndrome Microfilament Proteins - genetics Middle Aged Mitral Valve Prolapse - pathology Mutation Mutation - genetics Odds Ratio Phenotype Prevalence Statistics, Nonparametric |
| title | Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation |
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