Hypoplastic Left Heart Syndrome Is Heritable
Hypoplastic Left Heart Syndrome Is Heritable Robert B. Hinton, Jr, Lisa J. Martin, Meredith E. Tabangin, Mjaye L. Mazwi, Linda H. Cripe, D. Woodrow Benson Familial clustering of hypoplastic left heart syndrome (HLHS) and bicuspid aortic valve has been documented suggesting a genetic basis. To determ...
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| Veröffentlicht in: | Journal of the American College of Cardiology 2007-10, Vol.50 (16), p.1590-1595 |
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| container_title | Journal of the American College of Cardiology |
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| creator | Hinton, Robert B., MD Martin, Lisa J., PhD Tabangin, Meredith E., MPH Mazwi, Mjaye L., MD Cripe, Linda H., MD Benson, D. Woodrow, MD, PhD |
| description | Hypoplastic Left Heart Syndrome Is Heritable Robert B. Hinton, Jr, Lisa J. Martin, Meredith E. Tabangin, Mjaye L. Mazwi, Linda H. Cripe, D. Woodrow Benson Familial clustering of hypoplastic left heart syndrome (HLHS) and bicuspid aortic valve has been documented suggesting a genetic basis. To determine the size of the genetic effect, we used a sequential sampling strategy in 38 HLHS families and estimated heritability (h2 ) of HLHS and associated cardiovascular malformation using variance decomposition. The heritability of HLHS alone and with associated cardiovascular malformation was 99% and 74% (p < 0.00001), suggesting that HLHS is determined primarily by genetic factors. Valve dysplasia in HLHS probands and bicuspid aortic valve in relatives suggests that HLHS is a form of valve malformation. |
| doi_str_mv | 10.1016/j.jacc.2007.07.021 |
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Woodrow, MD, PhD</creator><creatorcontrib>Hinton, Robert B., MD ; Martin, Lisa J., PhD ; Tabangin, Meredith E., MPH ; Mazwi, Mjaye L., MD ; Cripe, Linda H., MD ; Benson, D. Woodrow, MD, PhD</creatorcontrib><description>Hypoplastic Left Heart Syndrome Is Heritable Robert B. Hinton, Jr, Lisa J. Martin, Meredith E. Tabangin, Mjaye L. Mazwi, Linda H. Cripe, D. Woodrow Benson Familial clustering of hypoplastic left heart syndrome (HLHS) and bicuspid aortic valve has been documented suggesting a genetic basis. To determine the size of the genetic effect, we used a sequential sampling strategy in 38 HLHS families and estimated heritability (h2 ) of HLHS and associated cardiovascular malformation using variance decomposition. The heritability of HLHS alone and with associated cardiovascular malformation was 99% and 74% (p < 0.00001), suggesting that HLHS is determined primarily by genetic factors. Valve dysplasia in HLHS probands and bicuspid aortic valve in relatives suggests that HLHS is a form of valve malformation.</description><identifier>ISSN: 0735-1097</identifier><identifier>EISSN: 1558-3597</identifier><identifier>DOI: 10.1016/j.jacc.2007.07.021</identifier><identifier>PMID: 17936159</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Aged ; Cardiology ; Cardiovascular ; Child ; Child, Preschool ; Confidence intervals ; Echocardiography, Doppler ; Estimates ; Families & family life ; Female ; Genetic Predisposition to Disease ; Heart ; Heart Defects, Congenital - genetics ; Hospitals ; Humans ; Hypoplastic Left Heart Syndrome - genetics ; Infant ; Infant, Newborn ; Internal Medicine ; Male ; Middle Aged ; Pedigree ; Phenotype ; Population ; Recurrence ; Siblings ; Studies</subject><ispartof>Journal of the American College of Cardiology, 2007-10, Vol.50 (16), p.1590-1595</ispartof><rights>American College of Cardiology Foundation</rights><rights>2007 American College of Cardiology Foundation</rights><rights>Copyright Elsevier Limited Oct 16, 2007</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c517t-4104deecf7326c6fedbc8dc74e2f75bf8043d0b60c7f7839cb1ede95d80cc68f3</citedby><cites>FETCH-LOGICAL-c517t-4104deecf7326c6fedbc8dc74e2f75bf8043d0b60c7f7839cb1ede95d80cc68f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S073510970702390X$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17936159$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hinton, Robert B., MD</creatorcontrib><creatorcontrib>Martin, Lisa J., PhD</creatorcontrib><creatorcontrib>Tabangin, Meredith E., MPH</creatorcontrib><creatorcontrib>Mazwi, Mjaye L., MD</creatorcontrib><creatorcontrib>Cripe, Linda H., MD</creatorcontrib><creatorcontrib>Benson, D. Woodrow, MD, PhD</creatorcontrib><title>Hypoplastic Left Heart Syndrome Is Heritable</title><title>Journal of the American College of Cardiology</title><addtitle>J Am Coll Cardiol</addtitle><description>Hypoplastic Left Heart Syndrome Is Heritable Robert B. Hinton, Jr, Lisa J. Martin, Meredith E. Tabangin, Mjaye L. Mazwi, Linda H. Cripe, D. Woodrow Benson Familial clustering of hypoplastic left heart syndrome (HLHS) and bicuspid aortic valve has been documented suggesting a genetic basis. To determine the size of the genetic effect, we used a sequential sampling strategy in 38 HLHS families and estimated heritability (h2 ) of HLHS and associated cardiovascular malformation using variance decomposition. The heritability of HLHS alone and with associated cardiovascular malformation was 99% and 74% (p < 0.00001), suggesting that HLHS is determined primarily by genetic factors. Valve dysplasia in HLHS probands and bicuspid aortic valve in relatives suggests that HLHS is a form of valve malformation.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Cardiology</subject><subject>Cardiovascular</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Confidence intervals</subject><subject>Echocardiography, Doppler</subject><subject>Estimates</subject><subject>Families & family life</subject><subject>Female</subject><subject>Genetic Predisposition to Disease</subject><subject>Heart</subject><subject>Heart Defects, Congenital - genetics</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Hypoplastic Left Heart Syndrome - genetics</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Internal Medicine</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Population</subject><subject>Recurrence</subject><subject>Siblings</subject><subject>Studies</subject><issn>0735-1097</issn><issn>1558-3597</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kdFq2zAUhsXoWNNuL7CLESjsqs6OJEuyYAxGaJdCYBfdYHfCPjoCeY6dSU4hbz-bBAq9KBwQiO__kb7D2EcOKw5cf2lXbY24EgBmNY_gb9iCK1UVUllzwRZgpCo4WHPJrnJuAUBX3L5jl9xYqbmyC3a7Oe6HfVfnMeJyS2FcbqhO4_Lx2Ps07Gj5kKebFMe66eg9exvqLtOH83nNft_f_Vpviu3PHw_r79sCFTdjUXIoPREGI4VGHcg3WHk0JYlgVBMqKKWHRgOaYCppseHkySpfAaKugrxmn0-9-zT8O1Ae3S5mpK6rexoO2ekpZI0oJ_DmBdgOh9RPb3NcgeZWgagmSpwoTEPOiYLbp7ir09FxcLNJ17rZpJtNunkEn0KfztWHZkf-OXJWNwFfTwBNJp4iJZcxUo_kYyIcnR_i6_3fXsSxi33EuvtLR8rP_3BZOHCP8y7nVYIBIS38kf8BFCuYAw</recordid><startdate>20071016</startdate><enddate>20071016</enddate><creator>Hinton, Robert B., MD</creator><creator>Martin, Lisa J., PhD</creator><creator>Tabangin, Meredith E., MPH</creator><creator>Mazwi, Mjaye L., MD</creator><creator>Cripe, Linda H., MD</creator><creator>Benson, D. 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Woodrow, MD, PhD</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c517t-4104deecf7326c6fedbc8dc74e2f75bf8043d0b60c7f7839cb1ede95d80cc68f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Cardiology</topic><topic>Cardiovascular</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Confidence intervals</topic><topic>Echocardiography, Doppler</topic><topic>Estimates</topic><topic>Families & family life</topic><topic>Female</topic><topic>Genetic Predisposition to Disease</topic><topic>Heart</topic><topic>Heart Defects, Congenital - genetics</topic><topic>Hospitals</topic><topic>Humans</topic><topic>Hypoplastic Left Heart Syndrome - genetics</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Internal Medicine</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Population</topic><topic>Recurrence</topic><topic>Siblings</topic><topic>Studies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hinton, Robert B., MD</creatorcontrib><creatorcontrib>Martin, Lisa J., PhD</creatorcontrib><creatorcontrib>Tabangin, Meredith E., MPH</creatorcontrib><creatorcontrib>Mazwi, Mjaye L., MD</creatorcontrib><creatorcontrib>Cripe, Linda H., MD</creatorcontrib><creatorcontrib>Benson, D. 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Woodrow, MD, PhD</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Hypoplastic Left Heart Syndrome Is Heritable</atitle><jtitle>Journal of the American College of Cardiology</jtitle><addtitle>J Am Coll Cardiol</addtitle><date>2007-10-16</date><risdate>2007</risdate><volume>50</volume><issue>16</issue><spage>1590</spage><epage>1595</epage><pages>1590-1595</pages><issn>0735-1097</issn><eissn>1558-3597</eissn><abstract>Hypoplastic Left Heart Syndrome Is Heritable Robert B. Hinton, Jr, Lisa J. Martin, Meredith E. Tabangin, Mjaye L. Mazwi, Linda H. Cripe, D. Woodrow Benson Familial clustering of hypoplastic left heart syndrome (HLHS) and bicuspid aortic valve has been documented suggesting a genetic basis. To determine the size of the genetic effect, we used a sequential sampling strategy in 38 HLHS families and estimated heritability (h2 ) of HLHS and associated cardiovascular malformation using variance decomposition. 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| subjects | Adolescent Adult Aged Cardiology Cardiovascular Child Child, Preschool Confidence intervals Echocardiography, Doppler Estimates Families & family life Female Genetic Predisposition to Disease Heart Heart Defects, Congenital - genetics Hospitals Humans Hypoplastic Left Heart Syndrome - genetics Infant Infant, Newborn Internal Medicine Male Middle Aged Pedigree Phenotype Population Recurrence Siblings Studies |
| title | Hypoplastic Left Heart Syndrome Is Heritable |
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