Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation
The purpose of this study was to assess the frequency, severity, and clinical associations of dural ectasia (DE) in Loeys–Dietz syndrome (LDS). Database analysis of three German metropolitan regions identified 30 patients with LDS and TGFBR1 mutation in 6 and a TGFBR2 mutation in 24 individuals (17...
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| Veröffentlicht in: | Clinical genetics 2014-12, Vol.86 (6), p.545-551 |
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| creator | Sheikhzadeh, S. Brockstaedt, L. Habermann, C.R. Sondermann, C. Bannas, P. Mir, T.S. Staebler, A. Seidel, H. Keyser, B. Arslan-Kirchner, M. Kutsche, K. Berger, J. Blankenberg, S. von Kodolitsch, Y. |
| description | The purpose of this study was to assess the frequency, severity, and clinical associations of dural ectasia (DE) in Loeys–Dietz syndrome (LDS). Database analysis of three German metropolitan regions identified 30 patients with LDS and TGFBR1 mutation in 6 and a TGFBR2 mutation in 24 individuals (17 men; mean age: 31 ± 19 years), as well as 60 age and sex‐matched control patients with Marfan syndrome carrying a FBN1 mutation. DE was present in 22 patients with LDS (73%), and it related to skeletal score points (p = 0.008), non‐skeletal score points (p < 0.001), and to the presence of ≥7 systemic score points (p = 0.010). Similarly, the severity of DE was related to body height (p = 0.010) and non‐skeletal score points (p = 0.004). Frequency (p = 0.131) and severity of DE (p = 0.567) was similar in LDS and Marfan syndrome. DE is a manifestation of LDS that occurs with similar frequency and severity as in Marfan syndrome. Severity of DE may serve as a marker of the overall connective tissue disease severity. LDS may be considered in patients with DE. |
| doi_str_mv | 10.1111/cge.12308 |
| format | Article |
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Database analysis of three German metropolitan regions identified 30 patients with LDS and TGFBR1 mutation in 6 and a TGFBR2 mutation in 24 individuals (17 men; mean age: 31 ± 19 years), as well as 60 age and sex‐matched control patients with Marfan syndrome carrying a FBN1 mutation. DE was present in 22 patients with LDS (73%), and it related to skeletal score points (p = 0.008), non‐skeletal score points (p < 0.001), and to the presence of ≥7 systemic score points (p = 0.010). Similarly, the severity of DE was related to body height (p = 0.010) and non‐skeletal score points (p = 0.004). Frequency (p = 0.131) and severity of DE (p = 0.567) was similar in LDS and Marfan syndrome. DE is a manifestation of LDS that occurs with similar frequency and severity as in Marfan syndrome. Severity of DE may serve as a marker of the overall connective tissue disease severity. LDS may be considered in patients with DE.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/cge.12308</identifier><identifier>PMID: 24344637</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adolescent ; Adult ; Aged ; Body Height ; Case-Control Studies ; Child ; Child, Preschool ; Dilatation, Pathologic - genetics ; dural ectasia ; Female ; Genetic disorders ; Genetic markers ; Humans ; Loeys-Dietz syndrome ; Loeys-Dietz Syndrome - genetics ; Loeys-Dietz Syndrome - physiopathology ; Magnetic Resonance Imaging ; Male ; Marfan syndrome ; Marfan Syndrome - genetics ; Marfan Syndrome - physiopathology ; Middle Aged ; Mutation ; Protein-Serine-Threonine Kinases - genetics ; Receptors, Transforming Growth Factor beta - genetics ; TGFBR1 ; TGFBR2 ; Young Adult</subject><ispartof>Clinical genetics, 2014-12, Vol.86 (6), p.545-551</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-c4948-5fad6fa95442a439fbaeb3eddd0b660473a675e5e8d711545a64c937b1454f913</citedby><cites>FETCH-LOGICAL-c4948-5fad6fa95442a439fbaeb3eddd0b660473a675e5e8d711545a64c937b1454f913</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fcge.12308$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fcge.12308$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24344637$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sheikhzadeh, S.</creatorcontrib><creatorcontrib>Brockstaedt, L.</creatorcontrib><creatorcontrib>Habermann, C.R.</creatorcontrib><creatorcontrib>Sondermann, C.</creatorcontrib><creatorcontrib>Bannas, P.</creatorcontrib><creatorcontrib>Mir, T.S.</creatorcontrib><creatorcontrib>Staebler, A.</creatorcontrib><creatorcontrib>Seidel, H.</creatorcontrib><creatorcontrib>Keyser, B.</creatorcontrib><creatorcontrib>Arslan-Kirchner, M.</creatorcontrib><creatorcontrib>Kutsche, K.</creatorcontrib><creatorcontrib>Berger, J.</creatorcontrib><creatorcontrib>Blankenberg, S.</creatorcontrib><creatorcontrib>von Kodolitsch, Y.</creatorcontrib><title>Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation</title><title>Clinical genetics</title><addtitle>Clin Genet</addtitle><description>The purpose of this study was to assess the frequency, severity, and clinical associations of dural ectasia (DE) in Loeys–Dietz syndrome (LDS). Database analysis of three German metropolitan regions identified 30 patients with LDS and TGFBR1 mutation in 6 and a TGFBR2 mutation in 24 individuals (17 men; mean age: 31 ± 19 years), as well as 60 age and sex‐matched control patients with Marfan syndrome carrying a FBN1 mutation. DE was present in 22 patients with LDS (73%), and it related to skeletal score points (p = 0.008), non‐skeletal score points (p < 0.001), and to the presence of ≥7 systemic score points (p = 0.010). Similarly, the severity of DE was related to body height (p = 0.010) and non‐skeletal score points (p = 0.004). Frequency (p = 0.131) and severity of DE (p = 0.567) was similar in LDS and Marfan syndrome. DE is a manifestation of LDS that occurs with similar frequency and severity as in Marfan syndrome. Severity of DE may serve as a marker of the overall connective tissue disease severity. LDS may be considered in patients with DE.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Body Height</subject><subject>Case-Control Studies</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Dilatation, Pathologic - genetics</subject><subject>dural ectasia</subject><subject>Female</subject><subject>Genetic disorders</subject><subject>Genetic markers</subject><subject>Humans</subject><subject>Loeys-Dietz syndrome</subject><subject>Loeys-Dietz Syndrome - genetics</subject><subject>Loeys-Dietz Syndrome - physiopathology</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Marfan syndrome</subject><subject>Marfan Syndrome - genetics</subject><subject>Marfan Syndrome - physiopathology</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Protein-Serine-Threonine Kinases - genetics</subject><subject>Receptors, Transforming Growth Factor beta - genetics</subject><subject>TGFBR1</subject><subject>TGFBR2</subject><subject>Young Adult</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqN0c1u1DAUBWALgeh0YMELIEtsYJHWjv_G7Mq0TYGhIFTE0nKSG-ohiQc7aQlPj0vaLpCQ8Oba0ucj2QehZ5Qc0LQOq29wQHNGVg_QgjKtM0IIf4gWaehMU8n20H6M23RkSujHaC_njHPJ1AJtj8dgWwzVYKOz2PV442GK2bGD4ReOU18H38FrXPluF-AS-uiuAMdhrCfsG8wI3tnBQT9EfO2GS2zxRXH65jPFPsy7HHfjkIjvn6BHjW0jPL2dS_Tl9ORifZZtPhZv10ebrOKarzLR2Fo2VgvOc8uZbkoLJYO6rkkpJeGKWakECFjVilLBhZW80kyVlAveaMqW6OWcuwv-xwhxMJ2LFbSt7cGP0aT_ECRnQsn_oLkiSuvEl-jFX3Trx9Cnh9woSSkRK5XUq1lVwccYoDG74DobJkOJuenKpK7Mn66SfX6bOJYd1PfyrpwEDmdw7VqY_p1k1sXJXWQ233BxgJ_3N2z4bqRK3Zuv54X5cPa-eHdOPxnKfgMZZamn</recordid><startdate>201412</startdate><enddate>201412</enddate><creator>Sheikhzadeh, S.</creator><creator>Brockstaedt, L.</creator><creator>Habermann, C.R.</creator><creator>Sondermann, C.</creator><creator>Bannas, P.</creator><creator>Mir, T.S.</creator><creator>Staebler, A.</creator><creator>Seidel, H.</creator><creator>Keyser, B.</creator><creator>Arslan-Kirchner, M.</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>201412</creationdate><title>Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation</title><author>Sheikhzadeh, S. ; Brockstaedt, L. ; Habermann, C.R. ; Sondermann, C. ; Bannas, P. ; Mir, T.S. ; Staebler, A. ; Seidel, H. ; Keyser, B. ; Arslan-Kirchner, M. ; Kutsche, K. ; Berger, J. ; Blankenberg, S. ; von Kodolitsch, Y.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4948-5fad6fa95442a439fbaeb3eddd0b660473a675e5e8d711545a64c937b1454f913</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Body Height</topic><topic>Case-Control Studies</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Dilatation, Pathologic - genetics</topic><topic>dural ectasia</topic><topic>Female</topic><topic>Genetic disorders</topic><topic>Genetic markers</topic><topic>Humans</topic><topic>Loeys-Dietz syndrome</topic><topic>Loeys-Dietz Syndrome - genetics</topic><topic>Loeys-Dietz Syndrome - physiopathology</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Marfan syndrome</topic><topic>Marfan Syndrome - genetics</topic><topic>Marfan Syndrome - physiopathology</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Protein-Serine-Threonine Kinases - genetics</topic><topic>Receptors, Transforming Growth Factor beta - genetics</topic><topic>TGFBR1</topic><topic>TGFBR2</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sheikhzadeh, S.</creatorcontrib><creatorcontrib>Brockstaedt, L.</creatorcontrib><creatorcontrib>Habermann, C.R.</creatorcontrib><creatorcontrib>Sondermann, C.</creatorcontrib><creatorcontrib>Bannas, P.</creatorcontrib><creatorcontrib>Mir, T.S.</creatorcontrib><creatorcontrib>Staebler, A.</creatorcontrib><creatorcontrib>Seidel, H.</creatorcontrib><creatorcontrib>Keyser, B.</creatorcontrib><creatorcontrib>Arslan-Kirchner, M.</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>Brockstaedt, L.</au><au>Habermann, C.R.</au><au>Sondermann, C.</au><au>Bannas, P.</au><au>Mir, T.S.</au><au>Staebler, A.</au><au>Seidel, H.</au><au>Keyser, B.</au><au>Arslan-Kirchner, M.</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>Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2014-12</date><risdate>2014</risdate><volume>86</volume><issue>6</issue><spage>545</spage><epage>551</epage><pages>545-551</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><abstract>The purpose of this study was to assess the frequency, severity, and clinical associations of dural ectasia (DE) in Loeys–Dietz syndrome (LDS). Database analysis of three German metropolitan regions identified 30 patients with LDS and TGFBR1 mutation in 6 and a TGFBR2 mutation in 24 individuals (17 men; mean age: 31 ± 19 years), as well as 60 age and sex‐matched control patients with Marfan syndrome carrying a FBN1 mutation. DE was present in 22 patients with LDS (73%), and it related to skeletal score points (p = 0.008), non‐skeletal score points (p < 0.001), and to the presence of ≥7 systemic score points (p = 0.010). Similarly, the severity of DE was related to body height (p = 0.010) and non‐skeletal score points (p = 0.004). Frequency (p = 0.131) and severity of DE (p = 0.567) was similar in LDS and Marfan syndrome. DE is a manifestation of LDS that occurs with similar frequency and severity as in Marfan syndrome. Severity of DE may serve as a marker of the overall connective tissue disease severity. LDS may be considered in patients with DE.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>24344637</pmid><doi>10.1111/cge.12308</doi><tpages>7</tpages></addata></record> |
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| subjects | Adolescent Adult Aged Body Height Case-Control Studies Child Child, Preschool Dilatation, Pathologic - genetics dural ectasia Female Genetic disorders Genetic markers Humans Loeys-Dietz syndrome Loeys-Dietz Syndrome - genetics Loeys-Dietz Syndrome - physiopathology Magnetic Resonance Imaging Male Marfan syndrome Marfan Syndrome - genetics Marfan Syndrome - physiopathology Middle Aged Mutation Protein-Serine-Threonine Kinases - genetics Receptors, Transforming Growth Factor beta - genetics TGFBR1 TGFBR2 Young Adult |
| title | Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation |
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