一例 TGFBR2 中 p.Tyr470Cys 基因导致主动脉扩张的家族病例，其表型仅包括血管病变。

IF 0.9 4区医学 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Cardiology in the Young Pub Date : 2024-10-04 DOI:10.1017/S104795112402585X

Hidenori Yamamoto, Ayako Tanabe, Taichi Kato

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引用次数: 0

摘要

遗传性结缔组织疾病的致病基因不同，主动脉夹层的风险也不同。我们报告了一个没有血管外表型的家族，临床诊断为家族性胸主动脉瘤和夹层，但基因检测证实了 TGFBR2 中的 p.Tyr470Cys，而 TGFBR2 通常是 Loeys-Dietz 综合征的致病基因。有必要通过基因检测验证临床诊断。

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A familial case of aortic dilatation with p.Tyr470Cys in TGFBR2 in which the phenotype included only vascular lesions.

Hereditary connective tissue diseases have different risks of aortic dissection depending on the causative gene. We report a family with no extravascular phenotype and a clinical diagnosis of familial thoracic aortic aneurysm and dissection, but genetic testing confirmed p.Tyr470Cys in TGFBR2, which is typically the responsible gene for Loeys-Dietz syndrome. Validation of the clinical diagnosis by genetic testing is warranted.

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来源期刊

Cardiology in the Young 医学-小儿科

CiteScore

1.70

自引率

10.00%

发文量

715

审稿时长

4-8 weeks

期刊介绍： Cardiology in the Young is devoted to cardiovascular issues affecting the young, and the older patient suffering the sequels of congenital heart disease, or other cardiac diseases acquired in childhood. The journal serves the interests of all professionals concerned with these topics. By design, the journal is international and multidisciplinary in its approach, and members of the editorial board take an active role in the its mission, helping to make it the essential journal in paediatric cardiology. All aspects of paediatric cardiology are covered within the journal. The content includes original articles, brief reports, editorials, reviews, and papers devoted to continuing professional development.