二叶式主动脉瓣的遗传：是否需要进行家族筛查？ - Suppr

Suppr

超能文献

Heredity of bicuspid aortic valve: is family screening indicated?

作者信息

McBride Kim L, Garg Vidu

出版信息

Heart. 2011 Aug;97(15):1193-5. doi: 10.1136/hrt.2011.222489. Epub 2011 Apr 1.

DOI:10.1136/hrt.2011.222489

PMID:21459929

Abstract

摘要

相似文献

Heredity of bicuspid aortic valve: is family screening indicated?二叶式主动脉瓣的遗传：是否需要进行家族筛查？

Heart. 2011 Aug;97(15):1193-5. doi: 10.1136/hrt.2011.222489. Epub 2011 Apr 1.

Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives?左心室流出道梗阻：是否应向一级亲属提供心脏筛查？

Heart. 2011 Aug;97(15):1228-32. doi: 10.1136/hrt.2010.211433. Epub 2011 Feb 22.

Left outflow tract anomalies in children.左心流出道异常。

Curr Opin Pediatr. 2010 Oct;22(5):593-7. doi: 10.1097/MOP.0b013e32833e130f.

Fabry's disease with LVOT obstruction: diagnosis and management.伴有左心室流出道梗阻的法布里病：诊断与管理

J Card Surg. 2013 Nov;28(6):695-8. doi: 10.1111/jocs.12209. Epub 2013 Sep 2.

My approach to clinical management of hypertrophic cardiomyopathy.我对肥厚型心肌病临床管理的方法。

Trends Cardiovasc Med. 2014 Oct;24(7):314-5. doi: 10.1016/j.tcm.2014.06.006. Epub 2014 Jul 10.

Screening for MEN 2 with biochemical and genetic markers.利用生化和基因标志物对2型多发性内分泌腺瘤进行筛查。

Recent Results Cancer Res. 1992;125:105-23. doi: 10.1007/978-3-642-84749-3_6.

Genetics of left ventricular outflow tract abnormalities.左心室流出道异常的遗传学

Acta Cardiol. 2006 Apr;61(2):202-3.

Mutations in VEGFA are associated with congenital left ventricular outflow tract obstruction.VEGFA 基因突变与先天性左心室流出道梗阻有关。

Biochem Biophys Res Commun. 2010 May 28;396(2):483-8. doi: 10.1016/j.bbrc.2010.04.124. Epub 2010 Apr 24.

The Development of Left Ventricular Hypertrophy in Patients With Left-Sided Obstructive Lesions: Are Genetics at Play?左侧梗阻性病变患者左心室肥厚的发展：基因在其中起作用吗？

Heart Lung Circ. 2018 Jan;27(1):1-2. doi: 10.1016/j.hlc.2017.11.001.

Adding age and genetic risk to PSA test could improve screening for prostate cancer.将年龄和遗传风险因素纳入前列腺特异性抗原（PSA）检测，可能会改善前列腺癌的筛查。

BMJ. 2012 Nov 6;345:e7467. doi: 10.1136/bmj.e7467.

引用本文的文献

Family screening for bicuspid aortic valve and aortic dilatation: a meta-analysis.家族性二叶式主动脉瓣和主动脉扩张的筛查：一项荟萃分析。

Eur Heart J. 2023 Sep 1;44(33):3152-3164. doi: 10.1093/eurheartj/ehad320.

Role of Segregation for Variant Discovery in Multiplex Families Ascertained by Probands With Left Sided Cardiovascular Malformations.在由患有左侧心血管畸形的先证者确定的多重家庭中，分离分析在变异发现中的作用。

Front Genet. 2019 Jan 11;9:729. doi: 10.3389/fgene.2018.00729. eCollection 2018.

Bicuspid Aortic Valve: a Review with Recommendations for Genetic Counseling.二叶式主动脉瓣：综述及遗传咨询建议

J Genet Couns. 2016 Dec;25(6):1171-1178. doi: 10.1007/s10897-016-0002-6. Epub 2016 Aug 22.

Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.利用全外显子组测序鉴定家族性先天性心脏病的致病突变。

Circ Cardiovasc Genet. 2016 Aug;9(4):320-9. doi: 10.1161/CIRCGENETICS.115.001324. Epub 2016 Jul 14.

Pathophysiology of valvular heart disease.心脏瓣膜病的病理生理学

Exp Ther Med. 2016 Apr;11(4):1184-1188. doi: 10.3892/etm.2016.3048. Epub 2016 Feb 5.

Etiology of valvular heart disease-genetic and developmental origins.心脏瓣膜病的病因——遗传和发育起源

Circ J. 2014;78(8):1801-7. doi: 10.1253/circj.cj-14-0510. Epub 2014 Jul 7.

Genetics of valvular heart disease.心脏瓣膜病的遗传学

Curr Cardiol Rep. 2014;16(6):487. doi: 10.1007/s11886-014-0487-2.

Genetic abnormalities in FOXP1 are associated with congenital heart defects.FOXP1 基因异常与先天性心脏缺陷有关。

Hum Mutat. 2013 Sep;34(9):1226-30. doi: 10.1002/humu.22366. Epub 2013 Jul 11.

Factors other than genotype account largely for the phenotypic variation of the pulmonary valve in Syrian hamsters.除基因型以外的因素在很大程度上导致了叙利亚仓鼠肺动脉瓣的表型变异。

J Anat. 2012 Jul;221(1):30-8. doi: 10.1111/j.1469-7580.2012.01512.x. Epub 2012 May 17.

Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome.在左心发育不全综合征患儿中鉴定出的亚微观染色体拷贝数变异。

Pediatr Cardiol. 2012 Jun;33(5):757-63. doi: 10.1007/s00246-012-0208-9. Epub 2012 Feb 21.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验