Abstract:
:Congenital heart disease is the most common congenital defect observed in newborns. Within the spectrum of congenital heart disease are left-sided obstructive lesions (LSOLs), which include hypoplastic left heart syndrome, aortic stenosis, bicuspid aortic valve, coarctation of the aorta, and interrupted aortic arch. These defects can arise in isolation or as a component of a defined syndrome; however, nonsyndromic defects are often observed in multiple family members and associated with high sibling recurrence risk. This clear evidence for a heritable basis has driven a lengthy search for disease-causing variants that has uncovered both rare and common variants in genes that, when perturbed in cardiac development, can result in LSOLs. Despite advancements in genetic sequencing platforms and broadening use of exome sequencing, the currently accepted LSOL-associated genes explain only 10% to 20% of patients. Further, the combinatorial effects of common and rare variants as a cause of LSOLs are emerging. In this review, we highlight the genes and variants associated with the different LSOLs and discuss the strengths and weaknesses of the present genetic associations. Furthermore, we discuss the research avenues needed to bridge the gaps in our current understanding of the genetic basis of nonsyndromic congenital heart disease.
journal_name
J Am Heart Assocjournal_title
Journal of the American Heart Associationauthors
Parker LE,Landstrom APdoi
10.1161/JAHA.120.019006subject
Has Abstractpub_date
2021-01-19 00:00:00pages
e019006issue
2issn
2047-9980journal_volume
10pub_type
杂志文章abstract:BACKGROUND:Women are more likely than men to develop resistant hypertension, which is associated with excess risk of major adverse outcomes; however, the impact of resistant hypertension in women with ischemia has not been explicitly studied. In this Women's Ischemia Syndrome Evaluation (WISE) analysis, we assessed lon...
journal_title:Journal of the American Heart Association
pub_type: 杂志文章,多中心研究
doi:10.1161/JAHA.113.000660
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journal_title:Journal of the American Heart Association
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pub_type: 杂志文章
doi:10.1161/JAHA.119.015616
更新日期:2020-06-16 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.119.013744
更新日期:2020-01-07 00:00:00
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pub_type: 杂志文章
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更新日期:2020-11-03 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.113.000140
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pub_type: 杂志文章
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更新日期:2016-07-13 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章,多中心研究
doi:10.1161/JAHA.115.002130
更新日期:2015-09-16 00:00:00
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pub_type: 杂志文章
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pub_type: 杂志文章,多中心研究
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更新日期:2014-11-17 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章
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更新日期:2014-10-20 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.119.015612
更新日期:2021-01-18 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章,评审
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更新日期:2016-06-17 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章,多中心研究
doi:10.1161/JAHA.118.011194
更新日期:2019-11-05 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.119.012406
更新日期:2019-06-18 00:00:00
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pub_type: 杂志文章
doi:10.1161/JAHA.120.016495
更新日期:2020-12-15 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.119.014940
更新日期:2020-03-03 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章
doi:10.1161/JAHA.119.015735
更新日期:2020-05-18 00:00:00
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pub_type: 杂志文章,多中心研究
doi:10.1161/JAHA.115.002905
更新日期:2016-03-30 00:00:00
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pub_type: 杂志文章
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更新日期:2012-04-01 00:00:00
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pub_type: 杂志文章,meta分析
doi:10.1161/JAHA.119.012428
更新日期:2019-08-20 00:00:00
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journal_title:Journal of the American Heart Association
pub_type: 杂志文章,多中心研究
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更新日期:2016-12-21 00:00:00
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更新日期:2019-03-19 00:00:00
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pub_type: 杂志文章,随机对照试验
doi:10.1161/JAHA.118.010827
更新日期:2019-05-07 00:00:00
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pub_type: 杂志文章,随机对照试验
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pub_type: 杂志文章,随机对照试验
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