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Correcting mitochondrial loss mitigates NOTCH1-related aortopathy in mice.纠正线粒体缺失可减轻小鼠中与NOTCH1相关的主动脉病变。
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Aortic valve replacement in a bicuspid aortic valve patient followed by reoperation for ascending aorta rupture: a case report.一例二叶式主动脉瓣患者行主动脉瓣置换术后因升主动脉破裂再次手术的病例报告。
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本文引用的文献

1
Familial Associations of Prevalence and Cause-Specific Mortality for Thoracic Aortic Disease and Bicuspid Aortic Valve in a Large-Population Database.基于大型人群数据库探讨胸主动脉疾病和二叶式主动脉瓣与患病率及病因特异性死亡率的家族关联性。
Circulation. 2023 Aug 22;148(8):637-647. doi: 10.1161/CIRCULATIONAHA.122.060439. Epub 2023 Jun 15.
2
2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.2022 ACC/AHA 血管疾病诊断与管理指南：美国心脏协会/美国心脏病学会联合临床实践指南委员会的报告。
Circulation. 2022 Dec 13;146(24):e334-e482. doi: 10.1161/CIR.0000000000001106. Epub 2022 Nov 2.
3
2021 ESC/EACTS Guidelines for the management of valvular heart disease.2021年欧洲心脏病学会/欧洲心胸外科学会瓣膜性心脏病管理指南。
Eur Heart J. 2022 Feb 12;43(7):561-632. doi: 10.1093/eurheartj/ehab395.
4
International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes.国际共识声明：先天性二叶主动脉瓣及其主动脉病变的命名和分类，用于临床、外科、介入和研究目的。
J Thorac Cardiovasc Surg. 2021 Sep;162(3):e383-e414. doi: 10.1016/j.jtcvs.2021.06.019. Epub 2021 Jul 22.
5
Prevalence of Bicuspid Aortic Valve and Associated Aortopathy in Newborns in Copenhagen, Denmark.丹麦哥本哈根新生儿二叶式主动脉瓣及相关主动脉病变的流行情况。
JAMA. 2021 Feb 9;325(6):561-567. doi: 10.1001/jama.2020.27205.
6
Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.NOTCH1、GATA4、SMAD6 和 ROBO4 的罕见有害变异在伴有早发并发症的 BAV 中富集，但在伴有遗传性胸主动脉疾病的 BAV 中不富集。
Mol Genet Genomic Med. 2020 Oct;8(10):e1406. doi: 10.1002/mgg3.1406. Epub 2020 Aug 3.
7
Genetics in bicuspid aortic valve disease: Where are we?二叶式主动脉瓣疾病的遗传学研究：我们进展到哪了？
Prog Cardiovasc Dis. 2020 Jul-Aug;63(4):398-406. doi: 10.1016/j.pcad.2020.06.005. Epub 2020 Jun 27.
8
The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective.胸主动脉瘤和夹层的遗传学：临床视角。
Biomolecules. 2020 Jan 24;10(2):182. doi: 10.3390/biom10020182.
9
Misclassification of bicuspid aortic valves is common and varies by imaging modality and patient characteristics.二叶式主动脉瓣的误诊很常见，且因成像方式和患者特征而异。
Echocardiography. 2019 Apr;36(4):761-765. doi: 10.1111/echo.14295. Epub 2019 Mar 4.
10
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.遗传性胸主动脉瘤和夹层的基因临床有效性。
J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. doi: 10.1016/j.jacc.2018.04.089.

Bicuspid Aortic Valve and Thoracic Aortic Disease: Further Evidence of Clinically Silent but Deadly Risk to Family Members of Affected Individuals.

作者信息

Prakash Siddharth K, Michelena Hector I, Milewicz Dianna M

机构信息

Department of Internal Medicine, University of Texas Health Science Center at Houston (S.K.P., D.M.M.).

Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN (H.I.M.).

出版信息

Circulation. 2023 Aug 22;148(8):648-650. doi: 10.1161/CIRCULATIONAHA.123.065406. Epub 2023 Aug 21.

DOI:10.1161/CIRCULATIONAHA.123.065406
PMID:37603605
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10659138/
Abstract
摘要