Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes
Turner syndrome (TS) is a genetic disorder presenting in phenotypic females with total or partial monosomy of the X chromosome. Cardiovascular abnormalities are common, including congenital heart defects (CHD) and aortic dilation. Although mosaic TS is suspected to have less severe phenotype as comp...
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| Veröffentlicht in: | Pediatric cardiology 2024-10, Vol.45 (7), p.1407-1414 |
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| creator | Birjiniuk, Alona Weisman, Allison Goetsch Laternser, Christina Camarda, Joseph Brickman, Wendy J. Habiby, Reema Patel, Sheetal R. |
| description | Turner syndrome (TS) is a genetic disorder presenting in phenotypic females with total or partial monosomy of the X chromosome. Cardiovascular abnormalities are common, including congenital heart defects (CHD) and aortic dilation. Although mosaic TS is suspected to have less severe phenotype as compared to non-mosaic TS, differences in cardiovascular manifestations between karyotypes are not well studied. This is a single-center retrospective cohort study including patients with TS seen from 2000 to 2022. Demographic data, chromosomal analysis, and imaging were reviewed. Karyotypes were categorized as monosomy X (45X), 45X mosaicism, isochromosome Xq, partial X deletions, ring X (r(X)), TS with Y material, and others. Prevalence of CHD and aortic dilation were compared between monosomy X and other subtypes using Pearson’s chi-square test and Welch two-sample t-test. We included 182 TS patients with median age 18 (range 4–33) years. CHD was more common in monosomy X as compared with others (61.4% vs. 26.8%,
p
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| doi_str_mv | 10.1007/s00246-023-03159-0 |
| format | Article |
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p
< 0.001), including bicuspid aortic valve (44.3% vs. 16.1%,
p
< 0.001), partial anomalous pulmonary venous return (12.9% vs. 2.7%,
p
= 0.023), persistent left superior vena cava (12.9% vs. 1.8%,
p
= 0.008), and coarctation of the aorta (20.0% vs. 4.5%,
p
= 0.003). Cardiac surgery (24.3% vs. 8.9%,
p
= 0.017) was more prevalent in the monosomy X group. There was no statistically significant difference for presence of aortic dilation (7.1% vs 1.8%,
p
= 0.187). Although CHD and need for cardiac surgery are more common in TS with monosomy X as compared to others, all TS subtypes may have similar risk of developing aortic dilation. All TS patients should have similar cardiovascular surveillance testing to monitor for aortic dilation.</description><identifier>ISSN: 0172-0643</identifier><identifier>ISSN: 1432-1971</identifier><identifier>EISSN: 1432-1971</identifier><identifier>DOI: 10.1007/s00246-023-03159-0</identifier><identifier>PMID: 37147524</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Adolescent ; Adult ; Cardiac Surgery ; Cardiology ; Child ; Child, Preschool ; Chromosomes, Human, X - genetics ; Female ; Heart Defects, Congenital - genetics ; Humans ; Karyotype ; Karyotyping ; Medicine ; Medicine & Public Health ; Mosaicism ; Phenotype ; Retrospective Studies ; Turner Syndrome - complications ; Turner Syndrome - genetics ; Vascular Surgery ; Young Adult</subject><ispartof>Pediatric cardiology, 2024-10, Vol.45 (7), p.1407-1414</ispartof><rights>The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><rights>2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c347t-499a232f907501289d70a6a11d8635bbbf218023863cd8c5933438a59ded9f503</citedby><cites>FETCH-LOGICAL-c347t-499a232f907501289d70a6a11d8635bbbf218023863cd8c5933438a59ded9f503</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00246-023-03159-0$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00246-023-03159-0$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/37147524$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Birjiniuk, Alona</creatorcontrib><creatorcontrib>Weisman, Allison Goetsch</creatorcontrib><creatorcontrib>Laternser, Christina</creatorcontrib><creatorcontrib>Camarda, Joseph</creatorcontrib><creatorcontrib>Brickman, Wendy J.</creatorcontrib><creatorcontrib>Habiby, Reema</creatorcontrib><creatorcontrib>Patel, Sheetal R.</creatorcontrib><title>Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes</title><title>Pediatric cardiology</title><addtitle>Pediatr Cardiol</addtitle><addtitle>Pediatr Cardiol</addtitle><description>Turner syndrome (TS) is a genetic disorder presenting in phenotypic females with total or partial monosomy of the X chromosome. Cardiovascular abnormalities are common, including congenital heart defects (CHD) and aortic dilation. Although mosaic TS is suspected to have less severe phenotype as compared to non-mosaic TS, differences in cardiovascular manifestations between karyotypes are not well studied. This is a single-center retrospective cohort study including patients with TS seen from 2000 to 2022. Demographic data, chromosomal analysis, and imaging were reviewed. Karyotypes were categorized as monosomy X (45X), 45X mosaicism, isochromosome Xq, partial X deletions, ring X (r(X)), TS with Y material, and others. Prevalence of CHD and aortic dilation were compared between monosomy X and other subtypes using Pearson’s chi-square test and Welch two-sample t-test. We included 182 TS patients with median age 18 (range 4–33) years. CHD was more common in monosomy X as compared with others (61.4% vs. 26.8%,
p
< 0.001), including bicuspid aortic valve (44.3% vs. 16.1%,
p
< 0.001), partial anomalous pulmonary venous return (12.9% vs. 2.7%,
p
= 0.023), persistent left superior vena cava (12.9% vs. 1.8%,
p
= 0.008), and coarctation of the aorta (20.0% vs. 4.5%,
p
= 0.003). Cardiac surgery (24.3% vs. 8.9%,
p
= 0.017) was more prevalent in the monosomy X group. There was no statistically significant difference for presence of aortic dilation (7.1% vs 1.8%,
p
= 0.187). Although CHD and need for cardiac surgery are more common in TS with monosomy X as compared to others, all TS subtypes may have similar risk of developing aortic dilation. All TS patients should have similar cardiovascular surveillance testing to monitor for aortic dilation.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Cardiac Surgery</subject><subject>Cardiology</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosomes, Human, X - genetics</subject><subject>Female</subject><subject>Heart Defects, Congenital - genetics</subject><subject>Humans</subject><subject>Karyotype</subject><subject>Karyotyping</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mosaicism</subject><subject>Phenotype</subject><subject>Retrospective Studies</subject><subject>Turner Syndrome - complications</subject><subject>Turner Syndrome - genetics</subject><subject>Vascular Surgery</subject><subject>Young Adult</subject><issn>0172-0643</issn><issn>1432-1971</issn><issn>1432-1971</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kEtPGzEURi1UBOHxB7qovOxm6PVj4nF3bXgUNQikhLXl8Vy3gxI7tWdA-fc4DWXZ1ZV1Px_7O4R8ZHDBANSXDMDltAIuKhCs1hUckAmTgldMK_aBTIApXsFUimNykvMTADTQ1EfkWCgmVc3lhLiZTV0fn21248omemdD7zEPduhjyDR6uhxTwEQX29CluMav9OE3hjhsN72jl733mDA4zPQ7Di-Igf60abtbI12M7W7mM3Lo7Srj-ds8JY_XV8vZj2p-f3M7-zavnJBqqKTWlgvuNagaGG90p8BOLWNdMxV127aes6aULSfXNa7WQkjR2Fp32Glfgzgln_fcTYp_xlLCrPvscLWyAeOYDW8Y6IJQskT5PupSzDmhN5vUr8vPDQOzk2v2ck15z_yVa3b8T2_8sV1j937ln80SEPtALqvwC5N5isVe6fw_7CucIoU6</recordid><startdate>20241001</startdate><enddate>20241001</enddate><creator>Birjiniuk, Alona</creator><creator>Weisman, Allison Goetsch</creator><creator>Laternser, Christina</creator><creator>Camarda, Joseph</creator><creator>Brickman, Wendy J.</creator><creator>Habiby, Reema</creator><creator>Patel, Sheetal R.</creator><general>Springer US</general><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>20241001</creationdate><title>Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes</title><author>Birjiniuk, Alona ; Weisman, Allison Goetsch ; Laternser, Christina ; Camarda, Joseph ; Brickman, Wendy J. ; Habiby, Reema ; Patel, Sheetal R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c347t-499a232f907501289d70a6a11d8635bbbf218023863cd8c5933438a59ded9f503</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Cardiac Surgery</topic><topic>Cardiology</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosomes, Human, X - genetics</topic><topic>Female</topic><topic>Heart Defects, Congenital - genetics</topic><topic>Humans</topic><topic>Karyotype</topic><topic>Karyotyping</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Mosaicism</topic><topic>Phenotype</topic><topic>Retrospective Studies</topic><topic>Turner Syndrome - complications</topic><topic>Turner Syndrome - genetics</topic><topic>Vascular Surgery</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Birjiniuk, Alona</creatorcontrib><creatorcontrib>Weisman, Allison Goetsch</creatorcontrib><creatorcontrib>Laternser, Christina</creatorcontrib><creatorcontrib>Camarda, Joseph</creatorcontrib><creatorcontrib>Brickman, Wendy J.</creatorcontrib><creatorcontrib>Habiby, Reema</creatorcontrib><creatorcontrib>Patel, Sheetal R.</creatorcontrib><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>Pediatric cardiology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Birjiniuk, Alona</au><au>Weisman, Allison Goetsch</au><au>Laternser, Christina</au><au>Camarda, Joseph</au><au>Brickman, Wendy J.</au><au>Habiby, Reema</au><au>Patel, Sheetal R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes</atitle><jtitle>Pediatric cardiology</jtitle><stitle>Pediatr Cardiol</stitle><addtitle>Pediatr Cardiol</addtitle><date>2024-10-01</date><risdate>2024</risdate><volume>45</volume><issue>7</issue><spage>1407</spage><epage>1414</epage><pages>1407-1414</pages><issn>0172-0643</issn><issn>1432-1971</issn><eissn>1432-1971</eissn><abstract>Turner syndrome (TS) is a genetic disorder presenting in phenotypic females with total or partial monosomy of the X chromosome. Cardiovascular abnormalities are common, including congenital heart defects (CHD) and aortic dilation. Although mosaic TS is suspected to have less severe phenotype as compared to non-mosaic TS, differences in cardiovascular manifestations between karyotypes are not well studied. This is a single-center retrospective cohort study including patients with TS seen from 2000 to 2022. Demographic data, chromosomal analysis, and imaging were reviewed. Karyotypes were categorized as monosomy X (45X), 45X mosaicism, isochromosome Xq, partial X deletions, ring X (r(X)), TS with Y material, and others. Prevalence of CHD and aortic dilation were compared between monosomy X and other subtypes using Pearson’s chi-square test and Welch two-sample t-test. We included 182 TS patients with median age 18 (range 4–33) years. CHD was more common in monosomy X as compared with others (61.4% vs. 26.8%,
p
< 0.001), including bicuspid aortic valve (44.3% vs. 16.1%,
p
< 0.001), partial anomalous pulmonary venous return (12.9% vs. 2.7%,
p
= 0.023), persistent left superior vena cava (12.9% vs. 1.8%,
p
= 0.008), and coarctation of the aorta (20.0% vs. 4.5%,
p
= 0.003). Cardiac surgery (24.3% vs. 8.9%,
p
= 0.017) was more prevalent in the monosomy X group. There was no statistically significant difference for presence of aortic dilation (7.1% vs 1.8%,
p
= 0.187). Although CHD and need for cardiac surgery are more common in TS with monosomy X as compared to others, all TS subtypes may have similar risk of developing aortic dilation. All TS patients should have similar cardiovascular surveillance testing to monitor for aortic dilation.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>37147524</pmid><doi>10.1007/s00246-023-03159-0</doi><tpages>8</tpages></addata></record> |
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| subjects | Adolescent Adult Cardiac Surgery Cardiology Child Child, Preschool Chromosomes, Human, X - genetics Female Heart Defects, Congenital - genetics Humans Karyotype Karyotyping Medicine Medicine & Public Health Mosaicism Phenotype Retrospective Studies Turner Syndrome - complications Turner Syndrome - genetics Vascular Surgery Young Adult |
| title | Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes |
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