FLNA变异患者保留瓣膜的主动脉根置换术

IF 1 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS

World Journal for Pediatric and Congenital Heart Surgery Pub Date : 2022-05-18 DOI:10.1177/21501351221099272

A. Lobbestael, Caleb P. Bupp, M. Haw

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引用次数: 0

摘要

我们报告一例38岁女性FLNA变异患者接受保留瓣主动脉根置换术。FLNA编码丝蛋白A，一种肌动蛋白结合蛋白。我们的病人由于这种变异导致了主动脉根部扩张。主动脉根部修复采用David程序，并对与这种遗传条件相关的组织脆性进行了修改。本病例证明了患者特异性遗传信息对手术时机和手术过程规划的价值。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Valve-Sparing Aortic Root Replacement in a Patient With an FLNA Variant

We report a case of a 38-year-old female with an FLNA variant who underwent valve-sparing aortic root replacement. FLNA encodes Filamin A, an actin-binding protein. Our patient had aortic root dilation due to this variant. Aortic root repair was conducted using the David procedure, with modifications to account for tissue fragility associated with this genetic condition. This case demonstrates the value of patient-specific genetic information for the timing of surgery and operative course planning.

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来源期刊

World Journal for Pediatric and Congenital Heart Surgery CARDIAC & CARDIOVASCULAR SYSTEMS-

CiteScore

1.80

自引率

11.10%

发文量

128