Fetal aortic root dilation: a prenatal feature of the Loeys‐Dietz syndrome
Loeys‐Dietz syndrome is a recently described autosomal dominant disorder with cardinal manifestations in cardiovascular, craniofacial and skeletal systems. Although the disease has some phenotypic overlap with Marfan syndrome, the disease, that is caused by mutations in the transforming growth facto...
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| Veröffentlicht in: | Prenatal diagnosis 2006-11, Vol.26 (11), p.1081-1083 |
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| container_title | Prenatal diagnosis |
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| creator | Viassolo, Valeria Lituania, Mario Marasini, Maurizio Dietz, Harry Benelli, Fabrizio Forzano, Francesca Faravelli, Francesca |
| description | Loeys‐Dietz syndrome is a recently described autosomal dominant disorder with cardinal manifestations in cardiovascular, craniofacial and skeletal systems. Although the disease has some phenotypic overlap with Marfan syndrome, the disease, that is caused by mutations in the transforming growth factor beta‐receptor 1 (TGFBR1) or transforming growth factor beta‐receptor 2 (TGFBR2) genes, presents many distinctive features and a particularly aggressive cardiovascular course.
We describe prenatal identification of an aortic root aneurysm in a fetus of 19 week of gestation as an early marker of Loeys‐Dietz syndrome. Copyright © 2006 John Wiley & Sons, Ltd. |
| doi_str_mv | 10.1002/pd.1565 |
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We describe prenatal identification of an aortic root aneurysm in a fetus of 19 week of gestation as an early marker of Loeys‐Dietz syndrome. Copyright © 2006 John Wiley & Sons, Ltd.</description><identifier>ISSN: 0197-3851</identifier><identifier>EISSN: 1097-0223</identifier><identifier>DOI: 10.1002/pd.1565</identifier><identifier>PMID: 16981219</identifier><identifier>CODEN: PRDIDM</identifier><language>eng</language><publisher>Chichester, UK: John Wiley & Sons, Ltd</publisher><subject>Abnormalities, Multiple - genetics ; aneurysm ; Aortic Aneurysm, Thoracic - diagnostic imaging ; Aortic Aneurysm, Thoracic - genetics ; aortic root dilatation ; Biological and medical sciences ; Blood and lymphatic vessels ; Cardiology. Vascular system ; Craniofacial Abnormalities - genetics ; Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous ; Female ; Gynecology. Andrology. Obstetrics ; Humans ; Infant ; Loeys‐Dietz ; Management. Prenatal diagnosis ; Medical sciences ; Mouth Abnormalities - genetics ; Mutation ; Pregnancy ; Pregnancy. Fetus. Placenta ; Prenatal Diagnosis ; Protein-Serine-Threonine Kinases ; Receptors, Transforming Growth Factor beta - genetics ; Ultrasonography</subject><ispartof>Prenatal diagnosis, 2006-11, Vol.26 (11), p.1081-1083</ispartof><rights>Copyright © 2006 John Wiley & Sons, Ltd.</rights><rights>2006 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4115-93a927488d4307fa2f4d061b7d141a7259ca005937f7331cfc37ec8ed034c6b23</citedby><cites>FETCH-LOGICAL-c4115-93a927488d4307fa2f4d061b7d141a7259ca005937f7331cfc37ec8ed034c6b23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fpd.1565$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fpd.1565$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18263934$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16981219$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Viassolo, Valeria</creatorcontrib><creatorcontrib>Lituania, Mario</creatorcontrib><creatorcontrib>Marasini, Maurizio</creatorcontrib><creatorcontrib>Dietz, Harry</creatorcontrib><creatorcontrib>Benelli, Fabrizio</creatorcontrib><creatorcontrib>Forzano, Francesca</creatorcontrib><creatorcontrib>Faravelli, Francesca</creatorcontrib><title>Fetal aortic root dilation: a prenatal feature of the Loeys‐Dietz syndrome</title><title>Prenatal diagnosis</title><addtitle>Prenat Diagn</addtitle><description>Loeys‐Dietz syndrome is a recently described autosomal dominant disorder with cardinal manifestations in cardiovascular, craniofacial and skeletal systems. Although the disease has some phenotypic overlap with Marfan syndrome, the disease, that is caused by mutations in the transforming growth factor beta‐receptor 1 (TGFBR1) or transforming growth factor beta‐receptor 2 (TGFBR2) genes, presents many distinctive features and a particularly aggressive cardiovascular course.
We describe prenatal identification of an aortic root aneurysm in a fetus of 19 week of gestation as an early marker of Loeys‐Dietz syndrome. Copyright © 2006 John Wiley & Sons, Ltd.</description><subject>Abnormalities, Multiple - genetics</subject><subject>aneurysm</subject><subject>Aortic Aneurysm, Thoracic - diagnostic imaging</subject><subject>Aortic Aneurysm, Thoracic - genetics</subject><subject>aortic root dilatation</subject><subject>Biological and medical sciences</subject><subject>Blood and lymphatic vessels</subject><subject>Cardiology. Vascular system</subject><subject>Craniofacial Abnormalities - genetics</subject><subject>Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous</subject><subject>Female</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>Infant</subject><subject>Loeys‐Dietz</subject><subject>Management. Prenatal diagnosis</subject><subject>Medical sciences</subject><subject>Mouth Abnormalities - genetics</subject><subject>Mutation</subject><subject>Pregnancy</subject><subject>Pregnancy. Fetus. Placenta</subject><subject>Prenatal Diagnosis</subject><subject>Protein-Serine-Threonine Kinases</subject><subject>Receptors, Transforming Growth Factor beta - genetics</subject><subject>Ultrasonography</subject><issn>0197-3851</issn><issn>1097-0223</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10LFOwzAQBmALgWgpiDdAXoABtfjsJI7ZUEsBqRIMMEeufRZBaRzsVKhMPALPyJOQ0kpMTHfDp_90PyHHwEbAGL9s7AjSLN0hfWBKDhnnYpf0GXS7yFPokYMYXzuYcyX3SQ8ylQMH1SezKba6otqHtjQ0eN9SW1a6LX19RTVtAtZ6DRzqdhmQekfbF6Qzj6v4_fk1KbH9oHFV2-AXeEj2nK4iHm3ngDxPb57Gd8PZw-39-Ho2NAlAOlRCKy6TPLeJYNJp7hLLMphLCwloyVNlNGOpEtJJIcA4IySaHC0TicnmXAzI2Sa3Cf5tibEtFmU0WFW6Rr-MRbZ-Lkugg-cbaIKPMaArmlAudFgVwIp1cUVji3VxnTzZRi7nC7R_bttUB063QEejKxd0bcr453KeCSWSzl1s3HtZ4eq_e8Xj5PfsDy3_gmY</recordid><startdate>200611</startdate><enddate>200611</enddate><creator>Viassolo, Valeria</creator><creator>Lituania, Mario</creator><creator>Marasini, Maurizio</creator><creator>Dietz, Harry</creator><creator>Benelli, Fabrizio</creator><creator>Forzano, Francesca</creator><creator>Faravelli, Francesca</creator><general>John Wiley & Sons, Ltd</general><general>Wiley</general><scope>IQODW</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>7X8</scope></search><sort><creationdate>200611</creationdate><title>Fetal aortic root dilation: a prenatal feature of the Loeys‐Dietz syndrome</title><author>Viassolo, Valeria ; Lituania, Mario ; Marasini, Maurizio ; Dietz, Harry ; Benelli, Fabrizio ; Forzano, Francesca ; Faravelli, Francesca</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4115-93a927488d4307fa2f4d061b7d141a7259ca005937f7331cfc37ec8ed034c6b23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>aneurysm</topic><topic>Aortic Aneurysm, Thoracic - diagnostic imaging</topic><topic>Aortic Aneurysm, Thoracic - genetics</topic><topic>aortic root dilatation</topic><topic>Biological and medical sciences</topic><topic>Blood and lymphatic vessels</topic><topic>Cardiology. Vascular system</topic><topic>Craniofacial Abnormalities - genetics</topic><topic>Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous</topic><topic>Female</topic><topic>Gynecology. Andrology. Obstetrics</topic><topic>Humans</topic><topic>Infant</topic><topic>Loeys‐Dietz</topic><topic>Management. Prenatal diagnosis</topic><topic>Medical sciences</topic><topic>Mouth Abnormalities - genetics</topic><topic>Mutation</topic><topic>Pregnancy</topic><topic>Pregnancy. Fetus. Placenta</topic><topic>Prenatal Diagnosis</topic><topic>Protein-Serine-Threonine Kinases</topic><topic>Receptors, Transforming Growth Factor beta - genetics</topic><topic>Ultrasonography</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Viassolo, Valeria</creatorcontrib><creatorcontrib>Lituania, Mario</creatorcontrib><creatorcontrib>Marasini, Maurizio</creatorcontrib><creatorcontrib>Dietz, Harry</creatorcontrib><creatorcontrib>Benelli, Fabrizio</creatorcontrib><creatorcontrib>Forzano, Francesca</creatorcontrib><creatorcontrib>Faravelli, Francesca</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Prenatal diagnosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Viassolo, Valeria</au><au>Lituania, Mario</au><au>Marasini, Maurizio</au><au>Dietz, Harry</au><au>Benelli, Fabrizio</au><au>Forzano, Francesca</au><au>Faravelli, Francesca</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Fetal aortic root dilation: a prenatal feature of the Loeys‐Dietz syndrome</atitle><jtitle>Prenatal diagnosis</jtitle><addtitle>Prenat Diagn</addtitle><date>2006-11</date><risdate>2006</risdate><volume>26</volume><issue>11</issue><spage>1081</spage><epage>1083</epage><pages>1081-1083</pages><issn>0197-3851</issn><eissn>1097-0223</eissn><coden>PRDIDM</coden><abstract>Loeys‐Dietz syndrome is a recently described autosomal dominant disorder with cardinal manifestations in cardiovascular, craniofacial and skeletal systems. Although the disease has some phenotypic overlap with Marfan syndrome, the disease, that is caused by mutations in the transforming growth factor beta‐receptor 1 (TGFBR1) or transforming growth factor beta‐receptor 2 (TGFBR2) genes, presents many distinctive features and a particularly aggressive cardiovascular course.
We describe prenatal identification of an aortic root aneurysm in a fetus of 19 week of gestation as an early marker of Loeys‐Dietz syndrome. Copyright © 2006 John Wiley & Sons, Ltd.</abstract><cop>Chichester, UK</cop><pub>John Wiley & Sons, Ltd</pub><pmid>16981219</pmid><doi>10.1002/pd.1565</doi><tpages>3</tpages></addata></record> |
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| subjects | Abnormalities, Multiple - genetics aneurysm Aortic Aneurysm, Thoracic - diagnostic imaging Aortic Aneurysm, Thoracic - genetics aortic root dilatation Biological and medical sciences Blood and lymphatic vessels Cardiology. Vascular system Craniofacial Abnormalities - genetics Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous Female Gynecology. Andrology. Obstetrics Humans Infant Loeys‐Dietz Management. Prenatal diagnosis Medical sciences Mouth Abnormalities - genetics Mutation Pregnancy Pregnancy. Fetus. Placenta Prenatal Diagnosis Protein-Serine-Threonine Kinases Receptors, Transforming Growth Factor beta - genetics Ultrasonography |
| title | Fetal aortic root dilation: a prenatal feature of the Loeys‐Dietz syndrome |
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