The grading diagnostic strategy of molecular autopsy combined with pathological autopsy in the forensic diagnosis of cardiomyopathy

The diagnosis of cardiomyopathy often relies on the subjective judgment of pathologists due to the variety of morphologic changes in the condition and its low specificity. This uncertainty can contribute to unexplained sudden cardiac deaths (USCD). To enhance the accuracy of hereditary cardiomyopath...

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Bibliographic Details
Published in:Legal medicine (Tokyo, Japan) Japan), 2024-05, Vol.68, p.102380-102380, Article 102380
Main Authors: Li, Zehao, Liu, Xiang, Lin, Lihua, Jiang, Min, Hou, Jiaqi, Wang, Shujuan, Chai, Qianqian, Li, Lianjie, Liu, Qian
Format: Article
Language:English
Subjects:
Accurate diagnosis
Adult
Aged
Autopsy - methods
Cardiomyopathies - diagnosis
Cardiomyopathies - genetics
Cardiomyopathies - pathology
Cardiomyopathy
Cause of Death
Connectin - genetics
Death, Sudden, Cardiac - pathology
Diagnosis strategy
Exome Sequencing
Female
Forensic medicine
Forensic Medicine - methods
Forensic Pathology - methods
Humans
Male
Middle Aged
Molecular autopsy
Pathological autopsy
Young Adult
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Summary:The diagnosis of cardiomyopathy often relies on the subjective judgment of pathologists due to the variety of morphologic changes in the condition and its low specificity. This uncertainty can contribute to unexplained sudden cardiac deaths (USCD). To enhance the accuracy of hereditary cardiomyopathy diagnosis in forensic medicine, we proposed a combination of molecular autopsy and pathologic autopsy. By analyzing 16 deceased patients suspected of cardiomyopathy, using whole exome sequencing (WES) in molecular autopsy, and applying a combined diagnostic strategy, the study found pathogenic or likely pathogenic variants in 6 cases. Out of the 16 cases, cardiomyopathy was confirmed in 3, while 3 exhibited conditions consistent with it. Data for 4 cases was inconclusive, and cardiomyopathy was ruled out in 6. Notably, a novel variant of the TTN gene was identified. This research suggests that a grading diagnostic strategy, combining molecular and pathological evidence, can improve the accuracy of forensic cardiomyopathy diagnosis. This approach provides a practical model and strategy for precise forensic cause-of-death determination, addressing the limitations of relying solely on morphologic assessments in cardiomyopathy cases, and integrating genetic information for a more comprehensive diagnosis.
ISSN:1344-6223
1873-4162
DOI:10.1016/j.legalmed.2023.102380