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儿童 ACTA2 基因突变型 A 型急性主动脉夹层的综合管理:儿童主动脉夹层的病例报告和文献复习。

Comprehensive management of type A acute aortic dissection in the paediatric population with ACTA 2 mutation: case reports and literature review of paediatric aortic dissection.

机构信息

Division of Congenital Heart Surgery, Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.

出版信息

Cardiol Young. 2023 Nov;33(11):2369-2374. doi: 10.1017/S1047951123001026. Epub 2023 May 4.

Abstract

Acute aortic dissection in the paediatric population is rare but lethal. We present two paediatric cases of type A acute aortic dissection that required emergent procedures and were later found to have genetic mutations. High index of suspicion, early clinical diagnosis, prompt treatment, the advantageous collaboration between the paediatric team and aortic surgeons, and familial genetic testing are paramount to achieve a good outcome.

摘要

儿童急性主动脉夹层较为罕见,但病死率极高。我们报告了两例儿童急性 A 型主动脉夹层病例,这两例患儿均需要紧急手术治疗,且后来均发现存在基因突变。高度怀疑、早期临床诊断、及时治疗、儿科团队与主动脉外科医生之间的有利协作,以及家族遗传性基因检测,对于取得良好预后至关重要。

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