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单绒毛膜双胎中一例左心发育不全综合征合并二叶式主动脉瓣的病例。

A case of hypoplastic left heart syndrome and bicuspid aortic valve in monochorionic twins.

作者信息

Mu T S, McAdams R M, Bush D M

机构信息

Wilford Hall Medical Center/859th MDOS, 2200 Bergquist Drive, Suite 1, Lackland AFB, TX 78236-5300, USA.

出版信息

Pediatr Cardiol. 2005 Nov-Dec;26(6):884-5. doi: 10.1007/s00246-005-1016-2.

Abstract

The etiology of hypoplastic left heart syndrome (HLHS) remains unclear. Since a genetic cause for HLHS has not been obvious, it is generally considered to be inherited in a multifactorial manner. Studies of twins are valuable in elucidating the genetic contribution to a birth defect such as HLHS. We report a case of monochorionic twins in whom one has HLHS and the other has a bicuspid aortic valve. Predisposing genetic and environmental influences on individuals with identical genotypes, such as twins, may result in discordance of left-sided flow lesions.

摘要

左心发育不全综合征(HLHS)的病因仍不清楚。由于HLHS的遗传原因尚不明显,一般认为它是以多因素方式遗传的。对双胞胎的研究有助于阐明诸如HLHS这类出生缺陷的遗传因素。我们报告了一例单绒毛膜双胞胎病例,其中一个患有HLHS,另一个患有二叶式主动脉瓣。对于具有相同基因型的个体,如双胞胎,遗传和环境因素可能导致左侧血流病变不一致。

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