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Article

A novel ACTA2 variant in sudden fatal familial thoracic aortic dissection: literature review and genotype-phenotype expansion.

Legal medicine (Tokyo, Japan) - 1 Mar 2026

Lihua Lin, Yijie Duan, Jing Huang, Jiaqi Hou, Qianqian Chai, Meichen Pan, Jianghua Du, Qian Liu

Abstract excerpt

Thoracic aortic dissection (TAD) is a life-threatening emergency frequently linked to underlying genetic variants, particularly in familial cases. Molecular autopsy has become increasingly valuable in forensic practice for identifying occult heritable disorders when routine autopsy alone cannot fully clarify the cause of death. Here, we report a 17-year-old male who died suddenly due to pericardial tamponade...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41643506
DOI: 10.1016/j.legalmed.2026.102790

Genes

ACTA2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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