Noonan syndrome associated with hypoplastic left heart syndrome
Noonan syndrome is an inherited disorder caused by alterations in the RAS-MAPK pathway. There have been several identified genotype–phenotype associations made with respect to congenital cardiac lesions and Noonan syndrome variants, but limited data exist regarding single ventricle disease in this p...
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| Veröffentlicht in: | Cardiology in the young 2023-04, Vol.33 (4), p.652-654 |
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| container_title | Cardiology in the young |
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| creator | Lawrence, Kendall M. Burstein, Danielle S. Ahrens-Nicklas, Rebecca Gaynor, J. William Nuri, Muhammad A. |
| description | Noonan syndrome is an inherited disorder caused by alterations in the RAS-MAPK pathway. There have been several identified genotype–phenotype associations made with respect to congenital cardiac lesions and Noonan syndrome variants, but limited data exist regarding single ventricle disease in this population. Here, we report two patients with PTPN11-related Noonan syndrome and hypoplastic left heart syndrome variants. |
| doi_str_mv | 10.1017/S1047951122002529 |
| format | Article |
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William ; Nuri, Muhammad A.</creator><creatorcontrib>Lawrence, Kendall M. ; Burstein, Danielle S. ; Ahrens-Nicklas, Rebecca ; Gaynor, J. William ; Nuri, Muhammad A.</creatorcontrib><description>Noonan syndrome is an inherited disorder caused by alterations in the RAS-MAPK pathway. There have been several identified genotype–phenotype associations made with respect to congenital cardiac lesions and Noonan syndrome variants, but limited data exist regarding single ventricle disease in this population. Here, we report two patients with PTPN11-related Noonan syndrome and hypoplastic left heart syndrome variants.</description><identifier>ISSN: 1047-9511</identifier><identifier>EISSN: 1467-1107</identifier><identifier>DOI: 10.1017/S1047951122002529</identifier><identifier>PMID: 35989466</identifier><language>eng</language><publisher>Cambridge, UK: Cambridge University Press</publisher><subject>Autopsies ; Cardiac Anatomy and Pathology ; Genetic Association Studies ; Genotype & phenotype ; Genotypes ; Growth factors ; Heart surgery ; Humans ; Hypoplastic Left Heart Syndrome - complications ; Hypoplastic Left Heart Syndrome - genetics ; MAP kinase ; Medical prognosis ; Mutation ; Neuroblastoma ; Noonan Syndrome - complications ; Noonan Syndrome - diagnosis ; Noonan Syndrome - genetics ; Noonan's syndrome ; Patients ; Phenotype ; Phenotypes ; Ventricle</subject><ispartof>Cardiology in the young, 2023-04, Vol.33 (4), p.652-654</ispartof><rights>The Author(s), 2022. 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William</creatorcontrib><creatorcontrib>Nuri, Muhammad A.</creatorcontrib><title>Noonan syndrome associated with hypoplastic left heart syndrome</title><title>Cardiology in the young</title><addtitle>Cardiol Young</addtitle><description>Noonan syndrome is an inherited disorder caused by alterations in the RAS-MAPK pathway. There have been several identified genotype–phenotype associations made with respect to congenital cardiac lesions and Noonan syndrome variants, but limited data exist regarding single ventricle disease in this population. Here, we report two patients with PTPN11-related Noonan syndrome and hypoplastic left heart syndrome variants.</description><subject>Autopsies</subject><subject>Cardiac Anatomy and Pathology</subject><subject>Genetic Association Studies</subject><subject>Genotype & phenotype</subject><subject>Genotypes</subject><subject>Growth factors</subject><subject>Heart surgery</subject><subject>Humans</subject><subject>Hypoplastic Left Heart Syndrome - complications</subject><subject>Hypoplastic Left Heart Syndrome - genetics</subject><subject>MAP kinase</subject><subject>Medical prognosis</subject><subject>Mutation</subject><subject>Neuroblastoma</subject><subject>Noonan Syndrome - complications</subject><subject>Noonan Syndrome - diagnosis</subject><subject>Noonan Syndrome - genetics</subject><subject>Noonan's syndrome</subject><subject>Patients</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Ventricle</subject><issn>1047-9511</issn><issn>1467-1107</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp1kE9LxDAQxYMo7rr6AbxIwYuX6iRpk8xJZPEfLHpQzyVNU7dL26xJi-y3t8uuKyieZuD93pvhEXJK4ZIClVcvFBKJKaWMAbCU4R4Z00TImFKQ-8M-yPFaH5GjEBYAlHMKh2TEU1SYCDEm10_OtbqNwqotvGtspENwptKdLaLPqptH89XSLWsduspEtS27aG6173b8MTkodR3syXZOyNvd7ev0IZ493z9Ob2ax4SztYgYFkzkHY5iQiImyAnLJmEbMMbGszKW1oigLBJCCYw4MlZbcsFQJFIxPyMUmd-ndR29DlzVVMLaudWtdHzImIU2AKsQBPf-FLlzv2-G7jClQiUKaqoGiG8p4F4K3Zbb0VaP9KqOQrdvN_rQ7eM62yX3e2GLn-K5zAPg2VDe5r4p3-3P7_9gvQ8aCGw</recordid><startdate>20230401</startdate><enddate>20230401</enddate><creator>Lawrence, Kendall M.</creator><creator>Burstein, Danielle S.</creator><creator>Ahrens-Nicklas, Rebecca</creator><creator>Gaynor, J. 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William ; Nuri, Muhammad A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c325t-20d27b30cc2679948e60b722a99b94e2fb7ee6dfd9007639b0298a73c25869623</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Autopsies</topic><topic>Cardiac Anatomy and Pathology</topic><topic>Genetic Association Studies</topic><topic>Genotype & phenotype</topic><topic>Genotypes</topic><topic>Growth factors</topic><topic>Heart surgery</topic><topic>Humans</topic><topic>Hypoplastic Left Heart Syndrome - complications</topic><topic>Hypoplastic Left Heart Syndrome - genetics</topic><topic>MAP kinase</topic><topic>Medical prognosis</topic><topic>Mutation</topic><topic>Neuroblastoma</topic><topic>Noonan Syndrome - complications</topic><topic>Noonan Syndrome - diagnosis</topic><topic>Noonan Syndrome - genetics</topic><topic>Noonan's syndrome</topic><topic>Patients</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Ventricle</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lawrence, Kendall M.</creatorcontrib><creatorcontrib>Burstein, Danielle S.</creatorcontrib><creatorcontrib>Ahrens-Nicklas, Rebecca</creatorcontrib><creatorcontrib>Gaynor, J. 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William</au><au>Nuri, Muhammad A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Noonan syndrome associated with hypoplastic left heart syndrome</atitle><jtitle>Cardiology in the young</jtitle><addtitle>Cardiol Young</addtitle><date>2023-04-01</date><risdate>2023</risdate><volume>33</volume><issue>4</issue><spage>652</spage><epage>654</epage><pages>652-654</pages><issn>1047-9511</issn><eissn>1467-1107</eissn><abstract>Noonan syndrome is an inherited disorder caused by alterations in the RAS-MAPK pathway. There have been several identified genotype–phenotype associations made with respect to congenital cardiac lesions and Noonan syndrome variants, but limited data exist regarding single ventricle disease in this population. 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| ispartof | Cardiology in the young, 2023-04, Vol.33 (4), p.652-654 |
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| source | MEDLINE; Cambridge University Press Journals Complete |
| subjects | Autopsies Cardiac Anatomy and Pathology Genetic Association Studies Genotype & phenotype Genotypes Growth factors Heart surgery Humans Hypoplastic Left Heart Syndrome - complications Hypoplastic Left Heart Syndrome - genetics MAP kinase Medical prognosis Mutation Neuroblastoma Noonan Syndrome - complications Noonan Syndrome - diagnosis Noonan Syndrome - genetics Noonan's syndrome Patients Phenotype Phenotypes Ventricle |
| title | Noonan syndrome associated with hypoplastic left heart syndrome |
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