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我们对一名患有巴赖特-温特综合征成年患者进行Bentall手术的经验。

Our experience on Bentall procedure in an adult patient with Baraitser-Winter syndrome.

作者信息

Akkaya Gökmen, Bilen Çağatay, Tuncer Osman Nuri, Ayık Mehmet Fatih, Atay Yüksel

机构信息

Department of Pediatric Cardiovascular Surgery, Ege University Faculty of Medicine, İzmir, Turkey.

出版信息

Turk Gogus Kalp Damar Cerrahisi Derg. 2018 Sep 16;26(4):639-641. doi: 10.5606/tgkdc.dergisi.2018.15758. eCollection 2018 Oct.

DOI:10.5606/tgkdc.dergisi.2018.15758
PMID:32082808
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7018188/
Abstract

Baraitser-Winter syndrome is a very rare genetic disorder caused by cytoplasmic actin-encoding genes defects. Although most patients have similar phenotype, concomitant cardiac anomalies widely vary. In addition to well-described congenital heart diseases, aortic aneurysms occur due to underlying actin gene mutation in these patients in the further years. Herein, we present a 26-year-old male case who underwent Bentall procedure with the diagnosis of new-onset aortic valve regurgitation and an ascending aorta aneurysm.

摘要

巴拉伊泽-温特综合征是一种非常罕见的遗传性疾病，由细胞质肌动蛋白编码基因缺陷引起。虽然大多数患者有相似的表型，但伴发的心脏异常差异很大。除了已详细描述的先天性心脏病外，这些患者在随后几年中会因潜在的肌动蛋白基因突变而发生主动脉瘤。在此，我们报告一例26岁男性病例，该患者因新发主动脉瓣反流和升主动脉瘤诊断接受了Bentall手术。

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1
Our experience on Bentall procedure in an adult patient with Baraitser-Winter syndrome.我们对一名患有巴赖特-温特综合征成年患者进行Bentall手术的经验。
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本文引用的文献

1
Molecular Regulation of Arterial Aneurysms: Role of Actin Dynamics and microRNAs in Vascular Smooth Muscle.动脉动脉瘤的分子调控：肌动蛋白动力学和微小RNA在血管平滑肌中的作用
Front Physiol. 2017 Aug 10;8:569. doi: 10.3389/fphys.2017.00569. eCollection 2017.
2
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.巴拉伊泽-温特脑额面综合征：42例病例的谱系描述
Eur J Hum Genet. 2015 Mar;23(3):292-301. doi: 10.1038/ejhg.2014.95. Epub 2014 Jul 23.
3
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.肌动蛋白基因 ACTB 和 ACTG1 中的新生突变导致 Baraitser-Winter 综合征。
Nat Genet. 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091.
4
Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin function.胸主动脉瘤和夹层α-平滑肌肌动蛋白突变的等位基因特异性对肌动蛋白功能的影响。
J Biol Chem. 2011 Apr 1;286(13):11356-69. doi: 10.1074/jbc.M110.203174. Epub 2011 Feb 2.
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A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia.
Brain Dev. 2010 Jun;32(6):502-5. doi: 10.1016/j.braindev.2009.04.015. Epub 2009 May 23.
6
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.平滑肌α-肌动蛋白（ACTA2）突变会导致胸主动脉瘤和主动脉夹层。
Nat Genet. 2007 Dec;39(12):1488-93. doi: 10.1038/ng.2007.6. Epub 2007 Nov 11.
7
The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature.巴拉伊泽-温特综合征的表型谱：1例新病例及文献复习
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Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.
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Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?虹膜缺损、上睑下垂、眼距过宽及智力发育迟缓：是巴赖特-温特综合征还是努南综合征？
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10
Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation.
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