Long-Term Follow-Up in 12 Children with Pulmonary Arteriovenous Malformations: Confirmation of Hereditary Hemorrhagic Telangiectasia in all Cases
Objective To assess whether pulmonary arteriovenous malformation (PAVM) is associated with hereditary hemorrhagic telangiectasia (HHT). Study design This study was a review of 12 children (sex ratio = 1) including family history, mutation analysis, and long-term follow-up. Results Five children were...
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| Veröffentlicht in: | The Journal of pediatrics 2007-09, Vol.151 (3), p.299-306 |
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| creator | Curie, Aurore, MD Lesca, Gaëtan, MD Cottin, Vincent, MD, PhD Edery, Patrick, MD, PhD Bellon, Gabriel, MD, PhD Faughnan, Marie E., MD, MSc Plauchu, Henri, MD, PhD |
| description | Objective To assess whether pulmonary arteriovenous malformation (PAVM) is associated with hereditary hemorrhagic telangiectasia (HHT). Study design This study was a review of 12 children (sex ratio = 1) including family history, mutation analysis, and long-term follow-up. Results Five children were under age 3 years when PAVM was diagnosed. Presentations included pulmonary symptoms (n = 8), cerebral abscess (n = 2), and transient ischemic attack (TIA) (n = 1); 1 patient was asymptomatic. Nine of the 12 children (75%) had a family history of PAVM. The diagnosis of HHT was confirmed in all cases. A mutation in ENG was found in 9 of the 10 children available for testing. No mutation in ACVRL1 was found. During long-term follow-up (mean, 16 years), the following complications occurred: TIA (n = 2), hemoptysis (n = 2), and cerebral abscess (n = 2). Nine children experienced recurrence of PAVM. The children with no recurrence were those without a family history of PAVM. Conclusions The diagnosis of HHT should be considered in a child with an apparently isolated PAVM. Because serious complications may occur at any age, we recommend screening for PAVM and long-term follow-up in children from families with HHT, especially those with an ENG mutation. |
| doi_str_mv | 10.1016/j.jpeds.2007.03.021 |
| format | Article |
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Study design This study was a review of 12 children (sex ratio = 1) including family history, mutation analysis, and long-term follow-up. Results Five children were under age 3 years when PAVM was diagnosed. Presentations included pulmonary symptoms (n = 8), cerebral abscess (n = 2), and transient ischemic attack (TIA) (n = 1); 1 patient was asymptomatic. Nine of the 12 children (75%) had a family history of PAVM. The diagnosis of HHT was confirmed in all cases. A mutation in ENG was found in 9 of the 10 children available for testing. No mutation in ACVRL1 was found. During long-term follow-up (mean, 16 years), the following complications occurred: TIA (n = 2), hemoptysis (n = 2), and cerebral abscess (n = 2). Nine children experienced recurrence of PAVM. The children with no recurrence were those without a family history of PAVM. Conclusions The diagnosis of HHT should be considered in a child with an apparently isolated PAVM. Because serious complications may occur at any age, we recommend screening for PAVM and long-term follow-up in children from families with HHT, especially those with an ENG mutation.</description><identifier>ISSN: 0022-3476</identifier><identifier>EISSN: 1097-6833</identifier><identifier>DOI: 10.1016/j.jpeds.2007.03.021</identifier><identifier>PMID: 17719943</identifier><identifier>CODEN: JOPDAB</identifier><language>eng</language><publisher>New York, NY: Mosby, Inc</publisher><subject>Adolescent ; Arteriovenous Malformations - complications ; Biological and medical sciences ; Blood Gas Analysis ; Cardiology. Vascular system ; Child ; Child, Preschool ; Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava ; DNA Mutational Analysis ; Female ; Follow-Up Studies ; General aspects ; Heart ; Hematologic and hematopoietic diseases ; Human health and pathology ; Humans ; Infant ; Infant, Newborn ; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis ; Life Sciences ; Male ; Medical sciences ; Pediatrics ; Pulmonary Artery - abnormalities ; Pulmonary Veins - abnormalities ; Telangiectasia, Hereditary Hemorrhagic - complications</subject><ispartof>The Journal of pediatrics, 2007-09, Vol.151 (3), p.299-306</ispartof><rights>Mosby, Inc.</rights><rights>2007 Mosby, Inc.</rights><rights>2008 INIST-CNRS</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c476t-1082193546ac1f8458e84bc6320c6cf71a47a574c74693ad91a7c9db04db87263</citedby><cites>FETCH-LOGICAL-c476t-1082193546ac1f8458e84bc6320c6cf71a47a574c74693ad91a7c9db04db87263</cites><orcidid>0000-0001-7691-9492 ; 0000-0001-8976-5832 ; 0000-0002-5591-0955</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.jpeds.2007.03.021$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,780,784,885,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19866508$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17719943$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.inrae.fr/hal-02667159$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Curie, Aurore, MD</creatorcontrib><creatorcontrib>Lesca, Gaëtan, MD</creatorcontrib><creatorcontrib>Cottin, Vincent, MD, PhD</creatorcontrib><creatorcontrib>Edery, Patrick, MD, PhD</creatorcontrib><creatorcontrib>Bellon, Gabriel, MD, PhD</creatorcontrib><creatorcontrib>Faughnan, Marie E., MD, MSc</creatorcontrib><creatorcontrib>Plauchu, Henri, MD, PhD</creatorcontrib><title>Long-Term Follow-Up in 12 Children with Pulmonary Arteriovenous Malformations: Confirmation of Hereditary Hemorrhagic Telangiectasia in all Cases</title><title>The Journal of pediatrics</title><addtitle>J Pediatr</addtitle><description>Objective To assess whether pulmonary arteriovenous malformation (PAVM) is associated with hereditary hemorrhagic telangiectasia (HHT). Study design This study was a review of 12 children (sex ratio = 1) including family history, mutation analysis, and long-term follow-up. Results Five children were under age 3 years when PAVM was diagnosed. Presentations included pulmonary symptoms (n = 8), cerebral abscess (n = 2), and transient ischemic attack (TIA) (n = 1); 1 patient was asymptomatic. Nine of the 12 children (75%) had a family history of PAVM. The diagnosis of HHT was confirmed in all cases. A mutation in ENG was found in 9 of the 10 children available for testing. No mutation in ACVRL1 was found. During long-term follow-up (mean, 16 years), the following complications occurred: TIA (n = 2), hemoptysis (n = 2), and cerebral abscess (n = 2). Nine children experienced recurrence of PAVM. The children with no recurrence were those without a family history of PAVM. Conclusions The diagnosis of HHT should be considered in a child with an apparently isolated PAVM. Because serious complications may occur at any age, we recommend screening for PAVM and long-term follow-up in children from families with HHT, especially those with an ENG mutation.</description><subject>Adolescent</subject><subject>Arteriovenous Malformations - complications</subject><subject>Biological and medical sciences</subject><subject>Blood Gas Analysis</subject><subject>Cardiology. Vascular system</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>General aspects</subject><subject>Heart</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Human health and pathology</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis</subject><subject>Life Sciences</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Pediatrics</subject><subject>Pulmonary Artery - abnormalities</subject><subject>Pulmonary Veins - abnormalities</subject><subject>Telangiectasia, Hereditary Hemorrhagic - complications</subject><issn>0022-3476</issn><issn>1097-6833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkl2LEzEUhgdR3O7qLxAkNwpeTD2ZzCQzgkIprhUqCnavQ5o506Zmkm4y7bI_Y_-xGVtc8MarfPCc93y8J8teUZhSoPz9brrbYxunBYCYAptCQZ9kEwqNyHnN2NNsAlAUOSsFv8guY9wBQFMCPM8uqBC0aUo2yR6W3m3yFYaeXHtr_V1-syfGEVqQ-dbYNqAjd2bYkh8H23unwj2ZhQGD8Ud0_hDJN2U7H3o1GO_iBzL3rjPnJ_EdWWDA1gxj3AJ7H8JWbYwmK7TKbQzqQUWjxoTKWjJXEeOL7FmnbMSX5_Mqu7n-vJov8uX3L1_ns2WuU0NDTqEuaMOqkitNu7qsaqzLteasAM11J6gqhapEqUXJG6bahiqhm3YNZbuuRcHZVfbupLtVVu6D6VON0isjF7OlHP-g4FzQqjnSxL49sfvgbw8YB9mbqNGmJjANQfK6AFY2oyg7gTr4GAN2f5UpyNE1uZN_XJOjaxJYyjLKvz7LH9Y9to8xZ5sS8OYMqKjTwINy2sRHrqk5r6BO3McTh2lwR4NBRm3Q6WRBSLOWrTf_KeTTP_HaGmdSyl94j3HnD8ElTySVsZAgf44LNu4XiHSrUqW_AVdXy6Q</recordid><startdate>20070901</startdate><enddate>20070901</enddate><creator>Curie, Aurore, MD</creator><creator>Lesca, Gaëtan, MD</creator><creator>Cottin, Vincent, MD, PhD</creator><creator>Edery, Patrick, MD, PhD</creator><creator>Bellon, Gabriel, MD, PhD</creator><creator>Faughnan, Marie E., MD, MSc</creator><creator>Plauchu, Henri, MD, PhD</creator><general>Mosby, Inc</general><general>Elsevier</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><scope>1XC</scope><orcidid>https://orcid.org/0000-0001-7691-9492</orcidid><orcidid>https://orcid.org/0000-0001-8976-5832</orcidid><orcidid>https://orcid.org/0000-0002-5591-0955</orcidid></search><sort><creationdate>20070901</creationdate><title>Long-Term Follow-Up in 12 Children with Pulmonary Arteriovenous Malformations: Confirmation of Hereditary Hemorrhagic Telangiectasia in all Cases</title><author>Curie, Aurore, MD ; Lesca, Gaëtan, MD ; Cottin, Vincent, MD, PhD ; Edery, Patrick, MD, PhD ; Bellon, Gabriel, MD, PhD ; Faughnan, Marie E., MD, MSc ; Plauchu, Henri, MD, PhD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c476t-1082193546ac1f8458e84bc6320c6cf71a47a574c74693ad91a7c9db04db87263</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adolescent</topic><topic>Arteriovenous Malformations - complications</topic><topic>Biological and medical sciences</topic><topic>Blood Gas Analysis</topic><topic>Cardiology. Vascular system</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>General aspects</topic><topic>Heart</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Human health and pathology</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis</topic><topic>Life Sciences</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Pediatrics</topic><topic>Pulmonary Artery - abnormalities</topic><topic>Pulmonary Veins - abnormalities</topic><topic>Telangiectasia, Hereditary Hemorrhagic - complications</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Curie, Aurore, MD</creatorcontrib><creatorcontrib>Lesca, Gaëtan, MD</creatorcontrib><creatorcontrib>Cottin, Vincent, MD, PhD</creatorcontrib><creatorcontrib>Edery, Patrick, MD, PhD</creatorcontrib><creatorcontrib>Bellon, Gabriel, MD, PhD</creatorcontrib><creatorcontrib>Faughnan, Marie E., MD, MSc</creatorcontrib><creatorcontrib>Plauchu, Henri, MD, PhD</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><collection>Hyper Article en Ligne (HAL)</collection><jtitle>The Journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Curie, Aurore, MD</au><au>Lesca, Gaëtan, MD</au><au>Cottin, Vincent, MD, PhD</au><au>Edery, Patrick, MD, PhD</au><au>Bellon, Gabriel, MD, PhD</au><au>Faughnan, Marie E., MD, MSc</au><au>Plauchu, Henri, MD, PhD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Long-Term Follow-Up in 12 Children with Pulmonary Arteriovenous Malformations: Confirmation of Hereditary Hemorrhagic Telangiectasia in all Cases</atitle><jtitle>The Journal of pediatrics</jtitle><addtitle>J Pediatr</addtitle><date>2007-09-01</date><risdate>2007</risdate><volume>151</volume><issue>3</issue><spage>299</spage><epage>306</epage><pages>299-306</pages><issn>0022-3476</issn><eissn>1097-6833</eissn><coden>JOPDAB</coden><abstract>Objective To assess whether pulmonary arteriovenous malformation (PAVM) is associated with hereditary hemorrhagic telangiectasia (HHT). Study design This study was a review of 12 children (sex ratio = 1) including family history, mutation analysis, and long-term follow-up. Results Five children were under age 3 years when PAVM was diagnosed. Presentations included pulmonary symptoms (n = 8), cerebral abscess (n = 2), and transient ischemic attack (TIA) (n = 1); 1 patient was asymptomatic. Nine of the 12 children (75%) had a family history of PAVM. The diagnosis of HHT was confirmed in all cases. A mutation in ENG was found in 9 of the 10 children available for testing. No mutation in ACVRL1 was found. During long-term follow-up (mean, 16 years), the following complications occurred: TIA (n = 2), hemoptysis (n = 2), and cerebral abscess (n = 2). Nine children experienced recurrence of PAVM. The children with no recurrence were those without a family history of PAVM. Conclusions The diagnosis of HHT should be considered in a child with an apparently isolated PAVM. Because serious complications may occur at any age, we recommend screening for PAVM and long-term follow-up in children from families with HHT, especially those with an ENG mutation.</abstract><cop>New York, NY</cop><pub>Mosby, Inc</pub><pmid>17719943</pmid><doi>10.1016/j.jpeds.2007.03.021</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0001-7691-9492</orcidid><orcidid>https://orcid.org/0000-0001-8976-5832</orcidid><orcidid>https://orcid.org/0000-0002-5591-0955</orcidid></addata></record> |
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| ispartof | The Journal of pediatrics, 2007-09, Vol.151 (3), p.299-306 |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Adolescent Arteriovenous Malformations - complications Biological and medical sciences Blood Gas Analysis Cardiology. Vascular system Child Child, Preschool Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava DNA Mutational Analysis Female Follow-Up Studies General aspects Heart Hematologic and hematopoietic diseases Human health and pathology Humans Infant Infant, Newborn Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis Life Sciences Male Medical sciences Pediatrics Pulmonary Artery - abnormalities Pulmonary Veins - abnormalities Telangiectasia, Hereditary Hemorrhagic - complications |
| title | Long-Term Follow-Up in 12 Children with Pulmonary Arteriovenous Malformations: Confirmation of Hereditary Hemorrhagic Telangiectasia in all Cases |
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