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一例洛伊茨-迪茨综合征青少年患者的近全主动脉置换术。

A case of near total aortic replacement in an adolescent with loeys-dietz syndrome.

机构信息

Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.

出版信息

Korean Circ J. 2012 Apr;42(4):288-91. doi: 10.4070/kcj.2012.42.4.288. Epub 2012 Apr 26.

DOI:10.4070/kcj.2012.42.4.288
PMID:22563345
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3341429/
Abstract

Loeys-Dietz syndrome is a recently described autosomal dominant disorder caused by mutations in the genes for transforming growth factor-beta receptor type 1 or 2 (TGF-ßR 1/2). The syndrome predisposes patients to aortic aneurysm and dissections, along with craniofacial and musculoskeletal abnormalities. Here we report the case of an adolescent who underwent serial near total aortic replacement, from the aortic valve to the descending aorta. Loeys-Dietz syndrome was confirmed in this case by the detection of a mutation in the TGF-ßR 2 gene.

摘要

Loeys-Dietz 综合征是一种最近被描述的常染色体显性遗传病，由转化生长因子-β受体 1 或 2（TGF-ßR 1/2）基因突变引起。该综合征使患者易患主动脉瘤和夹层，以及颅面和肌肉骨骼异常。在这里，我们报告了一例青少年患者，他接受了连续的近全主动脉置换术，从主动脉瓣到降主动脉。在该病例中，通过检测 TGF-ßR 2 基因突变证实了 Loeys-Dietz 综合征的诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ecb4/3341429/124fe6f5b9c5/kcj-42-288-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ecb4/3341429/c9e83916de57/kcj-42-288-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ecb4/3341429/33102f67bf82/kcj-42-288-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ecb4/3341429/124fe6f5b9c5/kcj-42-288-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ecb4/3341429/c9e83916de57/kcj-42-288-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ecb4/3341429/33102f67bf82/kcj-42-288-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ecb4/3341429/124fe6f5b9c5/kcj-42-288-g003.jpg

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Genet Med. 2014 Aug;16(8):576-87. doi: 10.1038/gim.2014.11. Epub 2014 Feb 27.

本文引用的文献

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Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease.洛伊斯-迪茨综合征的早期外科治疗经验：一种侵袭性胸主动脉瘤疾病的新综合征
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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.由TGFBR1或TGFBR2突变引起的心血管、颅面、神经认知和骨骼发育改变综合征。
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