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A rare case of mitral valve dysplasia and left ventricular noncompaction: surgical management and genetic investigation.

作者信息

Liu Lei, Fang Aijuan, Chen Hui, Shao Yongfeng, Ni Buqing, Yao Jing

机构信息

Department of Ultrasound Medicine, Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China.

Medical Image Center, Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China.

出版信息

Quant Imaging Med Surg. 2024 Feb 1;14(2):2120-2123. doi: 10.21037/qims-23-1159. Epub 2024 Jan 23.

DOI:10.21037/qims-23-1159
PMID:38415133
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10895090/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b41/10895090/44636afa41b9/qims-14-02-2120-vidS.6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b41/10895090/7689bd39e4cb/qims-14-02-2120-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b41/10895090/16dd678d4013/qims-14-02-2120-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b41/10895090/472544884a1d/qims-14-02-2120-vidS.1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b41/10895090/66165ee84800/qims-14-02-2120-vidS.2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b41/10895090/ed30e1a1a7da/qims-14-02-2120-vidS.3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b41/10895090/ca34300c2292/qims-14-02-2120-vidS.4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b41/10895090/ed101ae67260/qims-14-02-2120-vidS.5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b41/10895090/44636afa41b9/qims-14-02-2120-vidS.6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b41/10895090/7689bd39e4cb/qims-14-02-2120-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b41/10895090/16dd678d4013/qims-14-02-2120-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b41/10895090/472544884a1d/qims-14-02-2120-vidS.1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b41/10895090/66165ee84800/qims-14-02-2120-vidS.2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b41/10895090/ed30e1a1a7da/qims-14-02-2120-vidS.3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b41/10895090/ca34300c2292/qims-14-02-2120-vidS.4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b41/10895090/ed101ae67260/qims-14-02-2120-vidS.5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0b41/10895090/44636afa41b9/qims-14-02-2120-vidS.6.jpg

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本文引用的文献

1
Left Ventricular Non-compaction Cardiomyopathy: The Key to Its Diagnosis and Implications for Management.左心室致密化不全心肌病：诊断要点及治疗意义
Cureus. 2023 Oct 16;15(10):e47121. doi: 10.7759/cureus.47121. eCollection 2023 Oct.
2
In vivo characterization of glycogen storage disease type III in a mouse model using glycoNOE MRI.利用糖基化 NOE MRI 对 III 型糖原贮积症小鼠模型进行体内特征分析。
Magn Reson Med. 2024 Mar;91(3):1115-1121. doi: 10.1002/mrm.29923. Epub 2023 Nov 27.
3
Case report: further delineation of -related Ehlers-Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature.
病例报告：在另一例患者中对 -相关的埃勒斯-当洛综合征（经典型2型埃勒斯-当洛综合征）的进一步描述及对文献的全面临床和分子综述。
Front Genet. 2023 May 5;14:1102101. doi: 10.3389/fgene.2023.1102101. eCollection 2023.
4
Anatomical and biometric study of the mitral valve apparatus: application in valve repair surgery.二尖瓣装置的解剖和生物测量学研究：在瓣环成形术中的应用。
J Cardiothorac Surg. 2023 Apr 14;18(1):141. doi: 10.1186/s13019-023-02232-2.
5
ROD2 domain filamin C missense mutations exhibit a distinctive cardiac phenotype with restrictive/hypertrophic cardiomyopathy and saw-tooth myocardium.ROD2结构域细丝蛋白C错义突变表现出伴有限制性/肥厚性心肌病和锯齿状心肌的独特心脏表型。
Rev Esp Cardiol (Engl Ed). 2023 May;76(5):301-311. doi: 10.1016/j.rec.2022.08.002. Epub 2022 Aug 8.
6
Melody valve to replace the mitral valve in small children: Lessons learned.用于小儿二尖瓣置换的旋律瓣膜：经验教训
Ann Pediatr Cardiol. 2021 Jan-Mar;14(1):35-41. doi: 10.4103/apc.APC_74_20. Epub 2021 Jan 4.
7
Surgical Treatment of Congenital Mitral Valve Dysplasia.先天性二尖瓣发育异常的外科治疗
J Card Surg. 2016 May;31(5):352-6. doi: 10.1111/jocs.12743. Epub 2016 Apr 12.
8
Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression.肥厚型心肌病中心脏结构异常：小梁的分形分析及临床前基因表达
Circ Cardiovasc Genet. 2014 Jun;7(3):241-8. doi: 10.1161/CIRCGENETICS.113.000362. Epub 2014 Apr 5.
9
Mitral valve dysplasia syndrome.二尖瓣发育异常综合征
J Ultrasound Med. 2014 Feb;33(2):358-9. doi: 10.7863/ultra.33.2.358.
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Diversity of mitral valve abnormalities in obstructive hypertrophic cardiomyopathy.梗阻性肥厚型心肌病二尖瓣异常的多样性。
Prog Cardiovasc Dis. 2012 May-Jun;54(6):517-22. doi: 10.1016/j.pcad.2012.03.002.