Case Report: Lethal neonatal hypertrophic cardiomyopathy from compound heterozygous MYBPC3 variants
This "molecular autopsy" established a definitive cause for the infant's death, linking a novel variant to a severe pathological phenotype. Crucially, the diagnosis guided the clinical management of the asymptomatic carrier parents, prompting long-term cardiac surveillance and enabling preimplantation genetic testing (PGT) for future family planning. This case demonstrates how integrating molecular diagnostics with forensic pathology facilitates a systems medicine approach, transforming a fatal index case into actionable preventive care for the entire family.
Authors
- Renwu Zhou (ORCID: https://orcid.org/0000-0003-1773-7095)
- Zhengrong Mao
- Xutao Hong (ORCID: https://orcid.org/0000-0002-9971-8332)
- Yuefeng Zhu (ORCID: https://orcid.org/0000-0002-7625-1856)
- Yao Li (ORCID: https://orcid.org/0009-0007-2980-5274)
- Hong Li (ORCID: https://orcid.org/0000-0002-3841-5557)
- Jianying Wang (ORCID: https://orcid.org/0009-0001-7265-1668)
- Ming Qi (ORCID: https://orcid.org/0000-0002-3639-1408)
Institutions
- Zhejiang University of Science and Technology (CN)
- Wenzhou Medical University (CN)
- Sir Run Run Shaw Hospital (CN)
- Sinotech Genomics (China) (CN)
- Zhejiang University (CN)
Publication Details
- Journal
- Frontiers in Cardiovascular Medicine
- Published
- 2025-12-18
- DOI
- https://doi.org/10.3389/fcvm.2025.1726463
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00