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

机译:一例双绒毛膜双胎的左心发育不全综合征和二尖瓣主动脉瓣一例。

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摘要

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.
机译:左心发育不全综合征(HLHS)的病因仍不清楚。由于HLHS的遗传原因尚不明确,因此通常认为它是多因素遗传的。对双胞胎的研究对于阐明遗传因素对出生缺陷(例如HLHS)的贡献非常重要。我们报告一例单绒毛膜双胎,其中一个患有HLHS,另一个患有双尖瓣主动脉瓣。遗传和环境因素对具有相同基因型的个体(例如双胞胎)的易感性可能导致左侧血流损害的不一致。

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