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Is MYBPC3 linked to bicuspid aortic valve?

作者信息

Niaz Talha, Hagler Donald J

机构信息

Division of Pediatric Cardiology, Department of Pediatrics, Mayo Clinic, Rochester, Minnesota, USA.

Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA.

出版信息

Transl Pediatr. 2021 Feb;10(2):223-224. doi: 10.21037/tp-20-477.

DOI:10.21037/tp-20-477
PMID:33708507
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7944166/
Abstract
摘要

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Multimed Man Cardiothorac Surg. 2021 Sep 10;2021. doi: 10.1510/mmcts.2021.050.

本文引用的文献

1
Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies.左心发育不全综合征与心肌病的遗传关联。
Circ Genom Precis Med. 2021 Feb;14(1):e003126. doi: 10.1161/CIRCGEN.120.003126. Epub 2020 Dec 16.
2
An interesting Mybpc3 heterozygous mutation associated with bicuspid aortic valve.一种与二叶式主动脉瓣相关的有趣的肌球蛋白结合蛋白C3（Mybpc3）杂合突变。
Transl Pediatr. 2020 Oct;9(5):610-618. doi: 10.21037/tp-20-81.
3
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.
4
Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.肥厚型心肌病：遗传学、发病机制、临床表现、诊断与治疗
Circ Res. 2017 Sep 15;121(7):749-770. doi: 10.1161/CIRCRESAHA.117.311059.
5
Atlas of the clinical genetics of human dilated cardiomyopathy.人类扩张型心肌病的临床遗传学图谱。
Eur Heart J. 2015 May 7;36(18):1123-35a. doi: 10.1093/eurheartj/ehu301. Epub 2014 Aug 27.
6
A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium).探索二叶式主动脉瓣及其并发症遗传基础的路线图：来自国际 BAVCon（二叶式主动脉瓣联合会）的见解。
J Am Coll Cardiol. 2014 Aug 26;64(8):832-9. doi: 10.1016/j.jacc.2014.04.073.
7
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.孤立性左心室心肌致密化不全心肌病中的肌节基因突变不能预测临床表型。
Circ Cardiovasc Genet. 2011 Aug 1;4(4):367-74. doi: 10.1161/CIRCGENETICS.110.959270. Epub 2011 May 6.