首页> 外文期刊>The Canadian journal of cardiology >Successful Single-Stage Operation for Loeys-Dietz Syndrome With Critical Coarctation of the Descending Aorta in a Young Adult
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Successful Single-Stage Operation for Loeys-Dietz Syndrome With Critical Coarctation of the Descending Aorta in a Young Adult

机译:Loeys-Dietz综合征的成功的单阶段手术,降主动脉严重缩窄

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摘要

Patients with critical coarctation of the aorta complicated with Loeys-Dietz syndrome are extremely rare. We report a successful single-stage operation involving critical coarctation of the descending aorta with a bicuspid aortic valve, aneurysmal aortic root, and ascending aorta in a 19-year-old man. The patient was genetically evaluated and a novel heterozygous TGFBR2 mutation was detected.
机译:主动脉严重缩窄并伴有Loeys-Dietz综合征的患者极为罕见。我们报道了一个成功的单阶段手术,其中包括一名19岁男子双降主动脉瓣,动脉瘤性主动脉根和升主动脉的降主动脉严重缩窄。对患者进行了基因评估,并检测到新的杂合TGFBR2突变。

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