Cardiovascular findings in duplication 17p11.2 syndrome
Purpose: Cardiovascular abnormalities are newly recognized features of duplication 17p11.2 syndrome. In a single-center study, we evaluated subjects with duplication 17p11.2 syndrome for cardiovascular abnormalities. Methods: Twenty-five subjects with 17p11.2 duplication identified by chromosome ana...
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| Veröffentlicht in: | Genetics in medicine 2012-01, Vol.14 (1), p.90-94 |
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| creator | Jefferies, John L. Pignatelli, Ricardo H. Martinez, Hugo R. Robbins-Furman, Patricia J. Liu, Pengfei Gu, Wenli Lupski, James R. Potocki, Lorraine |
| description | Purpose:
Cardiovascular abnormalities are newly recognized features of duplication 17p11.2 syndrome. In a single-center study, we evaluated subjects with duplication 17p11.2 syndrome for cardiovascular abnormalities.
Methods:
Twenty-five subjects with 17p11.2 duplication identified by chromosome analysis and/or array-based comparative genomic hybridization were enrolled in a multidisciplinary protocol. In our clinical evaluation of these subjects, we performed physical examinations, echocardiography, and electrocardiography. Three of these subjects were followed up longitudinally at our institution.
Results:
Cardiovascular anomalies, including structural and conduction abnormalities, were identified in 10 of 25 (40%) of subjects with duplication 17p11.2 syndrome. The most frequent abnormality was dilated aortic root (20% of total cohort). Bicommissural aortic valve (2/25), atrial (3/25) and ventricular (2/25) septal defects, and patent foramen ovale (4/25) were also observed.
Conclusion:
Duplication 17p11.2 syndrome is associated with structural heart disease, aortopathy, and electrocardiographic abnormalities. Individuals with duplication 17p11.2 syndrome should be evaluated by electrocardiography and echocardiography at the time of diagnosis and monitored for cardiovascular disease over time. Further clinical investigation including longitudinal analysis would likely determine the age of onset and characterize the progression (if any) of vasculopathy in subjects with duplication 17p11.2 syndrome, so that specific guidelines can be established for cardiovascular management.
Genet Med
2012:14(1):90–94. |
| doi_str_mv | 10.1038/gim.0b013e3182329723 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3666919</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>954648767</sourcerecordid><originalsourceid>FETCH-LOGICAL-c546t-4aa912374c410065f5af393c94728e2ac99aedd66e1b9643ceed2f142c98c69b3</originalsourceid><addsrcrecordid>eNp9kctKAzEUhoMotlbfQGTAhaupuU0uG0GKNxDc6DqkmUxNmUlq0in07U1prZeFq3PgfOc_lx-AcwTHCBJxPXPdGE4hIpYggQmWHJMDMEQVgSUkjB3mHEpREgbhAJykNIcQcYLhMRhgjAmnhA0Bn-hYu7DSyfStjkXjfO38LBXOF3W_aJ3RSxd8gfgCoTEu0trXMXT2FBw1uk32bBdH4O3-7nXyWD6_PDxNbp9LU1G2LKnWEm1mGYogZFVT6YZIYiTlWFisjZTa1jVjFk0lo8RYW-MGUWykMExOyQjcbHUX_bSztbF-GXWrFtF1Oq5V0E79rnj3rmZhpfIHmEQyC1ztBGL46G1aqs4lY9tWexv6pGTekwrOeCYv_5Dz0Eefr1NYCC4rKSqYKbqlTAwpRdvsd0FQbYxR2Rj115jcdvHzjn3TlxMZqLZAyiU_s_F7-r_Cn8w1mmM</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2887959850</pqid></control><display><type>article</type><title>Cardiovascular findings in duplication 17p11.2 syndrome</title><source>MEDLINE</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>ProQuest Central UK/Ireland</source><source>Alma/SFX Local Collection</source><creator>Jefferies, John L. ; Pignatelli, Ricardo H. ; Martinez, Hugo R. ; Robbins-Furman, Patricia J. ; Liu, Pengfei ; Gu, Wenli ; Lupski, James R. ; Potocki, Lorraine</creator><creatorcontrib>Jefferies, John L. ; Pignatelli, Ricardo H. ; Martinez, Hugo R. ; Robbins-Furman, Patricia J. ; Liu, Pengfei ; Gu, Wenli ; Lupski, James R. ; Potocki, Lorraine</creatorcontrib><description>Purpose:
Cardiovascular abnormalities are newly recognized features of duplication 17p11.2 syndrome. In a single-center study, we evaluated subjects with duplication 17p11.2 syndrome for cardiovascular abnormalities.
Methods:
Twenty-five subjects with 17p11.2 duplication identified by chromosome analysis and/or array-based comparative genomic hybridization were enrolled in a multidisciplinary protocol. In our clinical evaluation of these subjects, we performed physical examinations, echocardiography, and electrocardiography. Three of these subjects were followed up longitudinally at our institution.
Results:
Cardiovascular anomalies, including structural and conduction abnormalities, were identified in 10 of 25 (40%) of subjects with duplication 17p11.2 syndrome. The most frequent abnormality was dilated aortic root (20% of total cohort). Bicommissural aortic valve (2/25), atrial (3/25) and ventricular (2/25) septal defects, and patent foramen ovale (4/25) were also observed.
Conclusion:
Duplication 17p11.2 syndrome is associated with structural heart disease, aortopathy, and electrocardiographic abnormalities. Individuals with duplication 17p11.2 syndrome should be evaluated by electrocardiography and echocardiography at the time of diagnosis and monitored for cardiovascular disease over time. Further clinical investigation including longitudinal analysis would likely determine the age of onset and characterize the progression (if any) of vasculopathy in subjects with duplication 17p11.2 syndrome, so that specific guidelines can be established for cardiovascular management.
Genet Med
2012:14(1):90–94.</description><identifier>ISSN: 1098-3600</identifier><identifier>EISSN: 1530-0366</identifier><identifier>DOI: 10.1038/gim.0b013e3182329723</identifier><identifier>PMID: 22237436</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Abnormalities, Multiple ; Adolescent ; Adult ; Biomedical and Life Sciences ; Biomedicine ; Cardiovascular Abnormalities - genetics ; Child ; Child, Preschool ; Chromosome Disorders ; Chromosome Duplication ; Comparative Genomic Hybridization ; Electrocardiography ; Female ; Gene Order ; Human Genetics ; Humans ; Laboratory Medicine ; Male ; original-research-article ; Smith-Magenis Syndrome - diagnosis ; Smith-Magenis Syndrome - genetics ; Young Adult</subject><ispartof>Genetics in medicine, 2012-01, Vol.14 (1), p.90-94</ispartof><rights>American College of Medical Genetics 2012</rights><rights>American College of Medical Genetics 2012.</rights><rights>American College of Medical Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c546t-4aa912374c410065f5af393c94728e2ac99aedd66e1b9643ceed2f142c98c69b3</citedby><cites>FETCH-LOGICAL-c546t-4aa912374c410065f5af393c94728e2ac99aedd66e1b9643ceed2f142c98c69b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/2887959850?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>230,314,780,784,885,27924,27925,64385,64387,64389,72469</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22237436$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jefferies, John L.</creatorcontrib><creatorcontrib>Pignatelli, Ricardo H.</creatorcontrib><creatorcontrib>Martinez, Hugo R.</creatorcontrib><creatorcontrib>Robbins-Furman, Patricia J.</creatorcontrib><creatorcontrib>Liu, Pengfei</creatorcontrib><creatorcontrib>Gu, Wenli</creatorcontrib><creatorcontrib>Lupski, James R.</creatorcontrib><creatorcontrib>Potocki, Lorraine</creatorcontrib><title>Cardiovascular findings in duplication 17p11.2 syndrome</title><title>Genetics in medicine</title><addtitle>Genet Med</addtitle><addtitle>Genet Med</addtitle><description>Purpose:
Cardiovascular abnormalities are newly recognized features of duplication 17p11.2 syndrome. In a single-center study, we evaluated subjects with duplication 17p11.2 syndrome for cardiovascular abnormalities.
Methods:
Twenty-five subjects with 17p11.2 duplication identified by chromosome analysis and/or array-based comparative genomic hybridization were enrolled in a multidisciplinary protocol. In our clinical evaluation of these subjects, we performed physical examinations, echocardiography, and electrocardiography. Three of these subjects were followed up longitudinally at our institution.
Results:
Cardiovascular anomalies, including structural and conduction abnormalities, were identified in 10 of 25 (40%) of subjects with duplication 17p11.2 syndrome. The most frequent abnormality was dilated aortic root (20% of total cohort). Bicommissural aortic valve (2/25), atrial (3/25) and ventricular (2/25) septal defects, and patent foramen ovale (4/25) were also observed.
Conclusion:
Duplication 17p11.2 syndrome is associated with structural heart disease, aortopathy, and electrocardiographic abnormalities. Individuals with duplication 17p11.2 syndrome should be evaluated by electrocardiography and echocardiography at the time of diagnosis and monitored for cardiovascular disease over time. Further clinical investigation including longitudinal analysis would likely determine the age of onset and characterize the progression (if any) of vasculopathy in subjects with duplication 17p11.2 syndrome, so that specific guidelines can be established for cardiovascular management.
Genet Med
2012:14(1):90–94.</description><subject>Abnormalities, Multiple</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cardiovascular Abnormalities - genetics</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromosome Disorders</subject><subject>Chromosome Duplication</subject><subject>Comparative Genomic Hybridization</subject><subject>Electrocardiography</subject><subject>Female</subject><subject>Gene Order</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Laboratory Medicine</subject><subject>Male</subject><subject>original-research-article</subject><subject>Smith-Magenis Syndrome - diagnosis</subject><subject>Smith-Magenis Syndrome - genetics</subject><subject>Young Adult</subject><issn>1098-3600</issn><issn>1530-0366</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp9kctKAzEUhoMotlbfQGTAhaupuU0uG0GKNxDc6DqkmUxNmUlq0in07U1prZeFq3PgfOc_lx-AcwTHCBJxPXPdGE4hIpYggQmWHJMDMEQVgSUkjB3mHEpREgbhAJykNIcQcYLhMRhgjAmnhA0Bn-hYu7DSyfStjkXjfO38LBXOF3W_aJ3RSxd8gfgCoTEu0trXMXT2FBw1uk32bBdH4O3-7nXyWD6_PDxNbp9LU1G2LKnWEm1mGYogZFVT6YZIYiTlWFisjZTa1jVjFk0lo8RYW-MGUWykMExOyQjcbHUX_bSztbF-GXWrFtF1Oq5V0E79rnj3rmZhpfIHmEQyC1ztBGL46G1aqs4lY9tWexv6pGTekwrOeCYv_5Dz0Eefr1NYCC4rKSqYKbqlTAwpRdvsd0FQbYxR2Rj115jcdvHzjn3TlxMZqLZAyiU_s_F7-r_Cn8w1mmM</recordid><startdate>20120101</startdate><enddate>20120101</enddate><creator>Jefferies, John L.</creator><creator>Pignatelli, Ricardo H.</creator><creator>Martinez, Hugo R.</creator><creator>Robbins-Furman, Patricia J.</creator><creator>Liu, Pengfei</creator><creator>Gu, Wenli</creator><creator>Lupski, James R.</creator><creator>Potocki, Lorraine</creator><general>Nature Publishing Group US</general><general>Elsevier Limited</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>5PM</scope></search><sort><creationdate>20120101</creationdate><title>Cardiovascular findings in duplication 17p11.2 syndrome</title><author>Jefferies, John L. ; Pignatelli, Ricardo H. ; Martinez, Hugo R. ; Robbins-Furman, Patricia J. ; Liu, Pengfei ; Gu, Wenli ; Lupski, James R. ; Potocki, Lorraine</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c546t-4aa912374c410065f5af393c94728e2ac99aedd66e1b9643ceed2f142c98c69b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Abnormalities, Multiple</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cardiovascular Abnormalities - genetics</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromosome Disorders</topic><topic>Chromosome Duplication</topic><topic>Comparative Genomic Hybridization</topic><topic>Electrocardiography</topic><topic>Female</topic><topic>Gene Order</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Laboratory Medicine</topic><topic>Male</topic><topic>original-research-article</topic><topic>Smith-Magenis Syndrome - diagnosis</topic><topic>Smith-Magenis Syndrome - genetics</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jefferies, John L.</creatorcontrib><creatorcontrib>Pignatelli, Ricardo H.</creatorcontrib><creatorcontrib>Martinez, Hugo R.</creatorcontrib><creatorcontrib>Robbins-Furman, Patricia J.</creatorcontrib><creatorcontrib>Liu, Pengfei</creatorcontrib><creatorcontrib>Gu, Wenli</creatorcontrib><creatorcontrib>Lupski, James R.</creatorcontrib><creatorcontrib>Potocki, Lorraine</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genetics in medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jefferies, John L.</au><au>Pignatelli, Ricardo H.</au><au>Martinez, Hugo R.</au><au>Robbins-Furman, Patricia J.</au><au>Liu, Pengfei</au><au>Gu, Wenli</au><au>Lupski, James R.</au><au>Potocki, Lorraine</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Cardiovascular findings in duplication 17p11.2 syndrome</atitle><jtitle>Genetics in medicine</jtitle><stitle>Genet Med</stitle><addtitle>Genet Med</addtitle><date>2012-01-01</date><risdate>2012</risdate><volume>14</volume><issue>1</issue><spage>90</spage><epage>94</epage><pages>90-94</pages><issn>1098-3600</issn><eissn>1530-0366</eissn><abstract>Purpose:
Cardiovascular abnormalities are newly recognized features of duplication 17p11.2 syndrome. In a single-center study, we evaluated subjects with duplication 17p11.2 syndrome for cardiovascular abnormalities.
Methods:
Twenty-five subjects with 17p11.2 duplication identified by chromosome analysis and/or array-based comparative genomic hybridization were enrolled in a multidisciplinary protocol. In our clinical evaluation of these subjects, we performed physical examinations, echocardiography, and electrocardiography. Three of these subjects were followed up longitudinally at our institution.
Results:
Cardiovascular anomalies, including structural and conduction abnormalities, were identified in 10 of 25 (40%) of subjects with duplication 17p11.2 syndrome. The most frequent abnormality was dilated aortic root (20% of total cohort). Bicommissural aortic valve (2/25), atrial (3/25) and ventricular (2/25) septal defects, and patent foramen ovale (4/25) were also observed.
Conclusion:
Duplication 17p11.2 syndrome is associated with structural heart disease, aortopathy, and electrocardiographic abnormalities. Individuals with duplication 17p11.2 syndrome should be evaluated by electrocardiography and echocardiography at the time of diagnosis and monitored for cardiovascular disease over time. Further clinical investigation including longitudinal analysis would likely determine the age of onset and characterize the progression (if any) of vasculopathy in subjects with duplication 17p11.2 syndrome, so that specific guidelines can be established for cardiovascular management.
Genet Med
2012:14(1):90–94.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>22237436</pmid><doi>10.1038/gim.0b013e3182329723</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Abnormalities, Multiple Adolescent Adult Biomedical and Life Sciences Biomedicine Cardiovascular Abnormalities - genetics Child Child, Preschool Chromosome Disorders Chromosome Duplication Comparative Genomic Hybridization Electrocardiography Female Gene Order Human Genetics Humans Laboratory Medicine Male original-research-article Smith-Magenis Syndrome - diagnosis Smith-Magenis Syndrome - genetics Young Adult |
| title | Cardiovascular findings in duplication 17p11.2 syndrome |
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