Novel Double MYH7/MYBPC3 Variants in a Chinese Family of Hypertrophic Cardiomyopathy with Early-Onset and Sudden Death
In families with varying HCM phenotypes, second-generation sequencing should be considered for all members. In this family, carrying one variant led to outflow tract obstruction, while carrying both variants resulted in severe disease, including sudden death and early onset. Cardiac MRI is crucial for assessing the severity of the disease within the family.
Authors
- Yao Lu (ORCID: https://orcid.org/0000-0001-6743-7870)
- Lanlan Zhang (ORCID: https://orcid.org/0000-0001-8128-0590)
- Jie Gao (ORCID: https://orcid.org/0000-0002-7423-2213)
- Shengjun Ta (ORCID: https://orcid.org/0009-0009-6459-4702)
- W. Li (ORCID: https://orcid.org/0009-0005-9617-472X)
- Jing Li (ORCID: https://orcid.org/0000-0002-5381-4716)
- Jiao Liu (ORCID: https://orcid.org/0000-0003-0304-241X)
- Jing Wang (ORCID: https://orcid.org/0000-0003-2410-5408)
- Bo Wang (ORCID: https://orcid.org/0000-0002-9620-3413)
- Yanmin Zhang (ORCID: https://orcid.org/0000-0001-7580-4693)
- Liwen Liu (ORCID: https://orcid.org/0000-0001-9838-5727)
- Ke Feng (ORCID: https://orcid.org/0000-0003-4476-1939)
- Chao Han (ORCID: https://orcid.org/0000-0002-3379-6653)
- Xueli Zhao
- Jia Zhao (ORCID: https://orcid.org/0000-0001-8607-9327)
- Yuze Qin
- Yue Wang (ORCID: https://orcid.org/0000-0002-7496-8888)
Institutions
- Northwest University (CN)
- Xi’an Children’s Hospital (CN)
- Xijing Hospital (CN)
- Air Force Medical University (CN)
Publication Details
- Journal
- Cardiology
- Published
- 2025-09-18
- DOI
- https://doi.org/10.1159/000548235
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00