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Article

A novel NOTCH1 nonsense variant in a bicuspid aortic valve family with intrafamilial clinical heterogeneity.

BMC cardiovascular disorders - 29 Sept 2025

Chen Qian, Xu Zi-Yan, Chi Wu, Chen Xiang, Zou Jing, Chen Ting, Wu Meng-Qian, Ruan Dan-Dan, Yu Hong-Ping, Zhang Jian-Hui, Gao Mei-Zhu, Zhang Li, Liao Li-Sheng, Fang Zhu-Ting, Lin Fan, Luo Jie-Wei, Chen Li

Abstract excerpt

BACKGROUND: Bicuspid aortic valve (BAV) represents a prevalent form of congenital heart disease. The NOTCH1 gene is implicated in the pathogenesis of BAV, and congenital valve anomalies caused by variants in this gene are classified as Aortic Valve Disease 1 (AOVD1), which is inherited in an autosomal dominant pattern. METHODS: Echocardiographic data and peripheral blood samples were collected from a Chinese...

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Identifiers

PMID: 41023825
DOI: 10.1186/s12872-025-05100-0
PMCID: PMC12482243

Genes

NOTCH1

Variants

Provenance

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