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首页> 外文期刊>Cardiovascular pathology: the official journal of the Society for Cardiovascular Pathology >Calcific bicuspid aortic valve disease in a patient with Cornelia de Lange syndrome: linking altered Notch signaling to aortic valve disease.
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Calcific bicuspid aortic valve disease in a patient with Cornelia de Lange syndrome: linking altered Notch signaling to aortic valve disease.

机译:Cornelia de Lange综合征患者的钙化二尖瓣主动脉瓣疾病:将Notch信号改变与主动脉瓣疾病联系起来。

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摘要

We describe a patient with Cornelia de Lange syndrome (CdLS) and a severely calcified bicuspid aortic valve. Cornelia de Lange syndrome is characterized by altered Notch signaling, and recent studies have provided a link between Notch signaling and heart valve development and calcific bicuspid aortic valve disease. In this case report, we propose that altered Notch signaling in CdLS may be causally linked to the calcific bicuspid aortic valve disease in these patients. Patients with CdLS should undergo routine echocardiographic examination for possible congenital cardiac defects including bicuspid aortic valve.
机译:我们描述了Cornelia de Lange综合征(CdLS)和严重钙化的二尖瓣主动脉瓣膜患者。 Cornelia de Lange综合征的特征是Notch信号改变,最近的研究提供了Notch信号与心脏瓣膜发展和钙化二尖瓣主动脉瓣疾病之间的联系。在本病例报告中,我们建议CdLS中Notch信号改变可能与这些患者的钙化二尖瓣主动脉瓣疾病有因果关系。 CdLS患者应接受常规超声心动图检查,以检查可能存在的先天性心脏缺陷,包括双尖瓣主动脉瓣。

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