Novel compound heterozygous ALPK3 mutations (c.4234C>T and c.3491G>A), causing hypertrophic cardiomyopathy treated with the liwen procedure: case report
This case suggests that compound heterozygosity for nonsense mutations combined with missense mutations in the <i>ALPK3</i> gene can lead to early-onset severe HCM, enriches the mutation spectrum of the <i>ALPK3</i> gene, reveals high frequency mutation sites in exons 4 and 10 specific to East Asian populations, suggesting potential racial genetic heterogeneity, and that the Liwen procedure is a safe and effective treatment for HCM.
Authors
- Liping Duan (ORCID: https://orcid.org/0000-0002-0686-1931)
- Feng-Hui Jiao
- Haiying Hu (ORCID: https://orcid.org/0000-0002-7748-8919)
- Renjie Zhang (ORCID: https://orcid.org/0000-0001-7055-5720)
- Wenjing Liu (ORCID: https://orcid.org/0000-0002-2324-3772)
- Yanan Wang (ORCID: https://orcid.org/0000-0002-7461-2195)
- Wen-juan Xu
- Hua Yang (ORCID: https://orcid.org/0000-0001-8594-5027)
- Chao Chang (ORCID: https://orcid.org/0000-0002-3019-8332)
- Xiufeng Zhao (ORCID: https://orcid.org/0009-0009-9394-4740)
Institutions
- Handan College (CN)
- Handa City Hospital (JP)
- County Hospital (GB)
Publication Details
- Journal
- Frontiers in Cardiovascular Medicine
- Published
- 2025-12-08
- DOI
- https://doi.org/10.3389/fcvm.2025.1671882
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Health Commission of Hebei Province