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家族性二尖瓣脱垂中的一种变异型：病例系列

A Variant in Familial Mitral Valve Prolapse: A Case Series.

作者信息

van Wijngaarden Aniek L, Koopmann Tamara T, Ruivenkamp Claudia A L, Wu Hoi W, Ajmone Marsan Nina, Barge-Schaapveld Daniela Q C M

机构信息

Department of Cardiology Leiden University Medical Center Leiden the Netherlands.

Department of Clinical Genetics Leiden University Medical Center Leiden the Netherlands.

出版信息

Clin Case Rep. 2025 Mar 28;13(4):e70282. doi: 10.1002/ccr3.70282. eCollection 2025 Apr.

DOI:10.1002/ccr3.70282
PMID:40161031
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11952993/
Abstract

In the presented case of familial mitral valve prolapse, whole exome sequencing was used to reveal a missense variant in the gene. This gene is considered a possible novel candidate gene for familial MVP based on PDLIM7 knock-out mice and zebrafish showing mitral valve abnormalities.

摘要

在这个呈现的家族性二尖瓣脱垂病例中，全外显子组测序被用于揭示该基因中的一个错义变异。基于敲除PDLIM7基因的小鼠和斑马鱼出现二尖瓣异常，该基因被认为是家族性二尖瓣脱垂一个可能的新候选基因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f28/11952993/612d1c6f8c42/CCR3-13-e70282-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f28/11952993/7f29da26aa66/CCR3-13-e70282-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f28/11952993/612d1c6f8c42/CCR3-13-e70282-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f28/11952993/7f29da26aa66/CCR3-13-e70282-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5f28/11952993/612d1c6f8c42/CCR3-13-e70282-g003.jpg

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本文引用的文献

1
Arrhythmic risk profile in mitral valve prolapse: A systematic review and metanalysis of 1715 patients.二尖瓣脱垂患者的心律失常风险特征：一项 1715 例患者的系统评价和荟萃分析。
J Cardiovasc Electrophysiol. 2024 Feb;35(2):290-300. doi: 10.1111/jce.16149. Epub 2023 Dec 14.
2
variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects.伴有 Holt-Oram 综合征的混合型完全性肺静脉异位引流和家族内可变心脏缺陷的新型表型变异。
Mol Med Rep. 2022 Jun;25(6). doi: 10.3892/mmr.2022.12726. Epub 2022 May 6.
3
Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology.
利用外显子切片方法鉴定与二尖瓣脱垂相关的已知和未知基因。
J Med Genet. 2020 Dec;57(12):843-850. doi: 10.1136/jmedgenet-2019-106715. Epub 2020 Apr 10.
4
Familial occurrence of mitral regurgitation in patients with mitral valve prolapse undergoing mitral valve surgery.二尖瓣脱垂患者行二尖瓣手术中合并二尖瓣关闭不全的家族性发病情况。
Eur J Prev Cardiol. 2020 Feb;27(3):272-280. doi: 10.1177/2047487319874148. Epub 2019 Sep 2.
5
Primary cilia defects causing mitral valve prolapse.原发性纤毛缺陷导致二尖瓣脱垂。
Sci Transl Med. 2019 May 22;11(493). doi: 10.1126/scitranslmed.aax0290.
6
Congenital valvular defects associated with deleterious mutations in the gene.与该基因有害突变相关的先天性瓣膜缺陷。
J Med Genet. 2017 Apr;54(4):278-286. doi: 10.1136/jmedgenet-2016-104259. Epub 2016 Oct 31.
7
Mutations in DCHS1 cause mitral valve prolapse.DCHS1基因的突变会导致二尖瓣脱垂。
Nature. 2015 Sep 3;525(7567):109-13. doi: 10.1038/nature14670. Epub 2015 Aug 10.
8
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.103例毛发-鼻-指综合征患者的表型和基因型
Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16.
9
Familial clustering of mitral valve prolapse in the community.社区中二尖瓣脱垂的家族聚集性。
Circulation. 2015 Jan 20;131(3):263-8. doi: 10.1161/CIRCULATIONAHA.114.012594. Epub 2014 Oct 31.
10
Loss of the cytoskeletal protein Pdlim7 predisposes mice to heart defects and hemostatic dysfunction.细胞骨架蛋白 Pdlim7 的缺失使小鼠易患心脏缺陷和止血功能障碍。
PLoS One. 2013 Nov 20;8(11):e80809. doi: 10.1371/journal.pone.0080809. eCollection 2013.