A novel NOTCH1 nonsense variant in a bicuspid aortic valve family with intrafamilial clinical heterogeneity
The NOTCH1 variant is a prevalent genetic factor in BAV etiology, exhibiting both interfamilial and intrafamilial phenotypic variability with incomplete penetrance. PLSVC and a widened coronary sinus represent common anatomical variations within the general population. Nevertheless, the potential role of NOTCH1 variants in the development of these vascular anomalies should be considered.
Authors
- Jing Zou (ORCID: https://orcid.org/0000-0002-3618-9672)
- Qian Chen (ORCID: https://orcid.org/0000-0002-3011-3722)
- Lisheng Liao (ORCID: https://orcid.org/0000-0002-6844-4113)
- Ziyan Xu (ORCID: https://orcid.org/0000-0003-1270-135X)
- Mei-zhu Gao (ORCID: https://orcid.org/0000-0001-8321-0158)
- Wu Chi
- Fan Yu Lin (ORCID: https://orcid.org/0000-0002-9435-5181)
- Li Chen (ORCID: https://orcid.org/0000-0002-6105-5115)
- Jie-wei Luo (ORCID: https://orcid.org/0000-0003-4271-4848)
- Dan‐dan Ruan (ORCID: https://orcid.org/0000-0001-9611-2979)
- Li Zhang (ORCID: https://orcid.org/0000-0003-1620-1512)
- Ting Chen (ORCID: https://orcid.org/0000-0001-8451-1913)
- Daniel Chen (ORCID: https://orcid.org/0000-0002-4716-549X)
- Jianhui Zhang (ORCID: https://orcid.org/0000-0003-4767-0696)
- Hongping Yu (ORCID: https://orcid.org/0000-0001-9851-2351)
- Mei X. Wu (ORCID: https://orcid.org/0000-0001-5456-5283)
- Zhu-Ting Fang
Institutions
- Shanghai University (CN)
- Fujian Medical University (CN)
- Nanchang University (CN)
- Fujian Provincial Hospital (CN)
- Fuzhou University (CN)
Publication Details
- Journal
- BMC Cardiovascular Disorders
- Published
- 2025-09-29
- DOI
- https://doi.org/10.1186/s12872-025-05100-0
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Fujian Provincial Health Commission