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Early ascertainment of genetic diagnoses clarifies impact on medium-term survival following neonatal congenital heart surgery.

作者信息

Landis Benjamin J, Helm Benjamin M, Durbin Matthew D, Helvaty Lindsey R, Herrmann Jeremy L, Johansen Michael, Geddes Gabrielle C, Ware Stephanie M

机构信息

Department of Pediatrics, Riley Hospital for Children.

Department of Medical and Molecular Genetics, and.

出版信息

J Clin Invest. 2024 Jul 30;134(18):e180098. doi: 10.1172/JCI180098.

DOI:10.1172/JCI180098
PMID:39078715
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11405028/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9ae/11405028/938e067310fe/jci-134-180098-g131.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9ae/11405028/938e067310fe/jci-134-180098-g131.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b9ae/11405028/938e067310fe/jci-134-180098-g131.jpg

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Early ascertainment of genetic diagnoses clarifies impact on medium-term survival following neonatal congenital heart surgery.早期确定基因诊断可明确对新生儿先天性心脏病手术后中期生存的影响。
J Clin Invest. 2024 Jul 30;134(18):e180098. doi: 10.1172/JCI180098.
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本文引用的文献

1
Learning to Crawl: Determining the Role of Genetic Abnormalities on Postoperative Outcomes in Congenital Heart Disease.学习爬行：确定遗传异常对先天性心脏病术后结果的影响。
J Am Heart Assoc. 2022 Oct 4;11(19):e026369. doi: 10.1161/JAHA.122.026369. Epub 2022 Sep 29.
2
De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.先天性心脏病中的新生致病变异、临床表型和术后结果。
Circ Genom Precis Med. 2020 Aug;13(4):e002836. doi: 10.1161/CIRCGEN.119.002836. Epub 2020 Jun 30.
3
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.
先天性心脏病的遗传学基础：再探：美国心脏协会的科学声明。
Circulation. 2018 Nov 20;138(21):e653-e711. doi: 10.1161/CIR.0000000000000606.
4
An empirically based tool for analyzing morbidity associated with operations for congenital heart disease.一种基于经验的工具，用于分析与先天性心脏病手术相关的发病率。
J Thorac Cardiovasc Surg. 2013 Apr;145(4):1046-1057.e1. doi: 10.1016/j.jtcvs.2012.06.029. Epub 2012 Jul 24.
5
Impact of noncardiac congenital and genetic abnormalities on outcomes in hypoplastic left heart syndrome.非心脏先天性和遗传性异常对左心发育不良综合征结局的影响。
Ann Thorac Surg. 2010 Jun;89(6):1805-13; discussion 1813-4. doi: 10.1016/j.athoracsur.2010.02.004.