FLNA公司
主动脉根
医学
菲拉明
主动脉瓣
心脏病学
外科
主动脉瓣置换术
内科学
遗传学
主动脉
细胞
生物
细胞骨架
狭窄
作者
Adam J. Lobbestael,Caleb Bupp,Marcus P. Haw
标识
DOI:10.1177/21501351221099272
摘要
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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