2例2型Loeys-Dietz综合征升主动脉表型相似突变的分析

IF 1.6 4区医学 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS Interactive cardiovascular and thoracic surgery Pub Date : 2022-06-11 DOI:10.1093/icvts/ivac159

R. Heck, Björn Fischer-Zirnsak, J. Photiadis, D. Horn, P. Gehle

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引用次数: 0

摘要

我们的目的是介绍2例确诊的Loeys-Dietz综合征的婴儿。TGFBR2基因外显子7错义突变仅相隔5个密码子(C . 1597t >C和C . 1582c >G)。在表型上，升主动脉的动脉瘤局限于不同的主动脉段:1例为结上段，另1例为主动脉根。这些病例突出了信号通路和基因表达在主动脉瘤发病机制中的复杂性。

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Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2

Abstract Our goal was to present 2 infants with confirmed Loeys-Dietz syndrome. The missense mutations in exon 7 of the TGFBR2 gene are only 5 codons apart (c.1597T>C and c.1582C>G). Phenotypically, the aneurysms of the ascending aorta were restricted to different segments of the aorta: the suprajunctional segment in 1 patient and the aortic root in another. These cases highlight the complexity of signaling pathways and gene expression in the pathogenesis of aortic aneurysms.

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来源期刊

Interactive cardiovascular and thoracic surgery CARDIAC & CARDIOVASCULAR SYSTEMS-

CiteScore

3.30

自引率

0.00%

发文量

292

审稿时长

2-4 weeks

期刊介绍： Interactive CardioVascular and Thoracic Surgery (ICVTS) publishes scientific contributions in the field of cardiovascular and thoracic surgery, covering all aspects of surgery of the heart, vessels and the chest. The journal publishes a range of article types including: Best Evidence Topics; Brief Communications; Case Reports; Original Articles; State-of-the-Art; Work in Progress Report.