# The Role of Molecular Autopsy in Concealed Cardiomyopathies

**Authors:** Oscar Campuzano, Coloma Tirón, Estefanía Martínez-Barrios, Andrea Greco, Jose Cruzalegui, Fredy Chipa, Sergi Cesar, Erika Fernanda Merchan, Mónica Coll, Anna Fernández-Falgueras, Ramon Brugada, Marisa Ortega, Núria Molina, Eneko Barberia, Rocío Toro, Antonio Oliva, Simone Grassi, Georgia Sarquella-Brugada

PMC · DOI: 10.3390/genes16111273 · Genes · 2025-10-28

## TL;DR

Molecular autopsies help identify hidden heart conditions in sudden deaths, especially in young people, and can guide family members to take preventive actions.

## Contribution

The paper emphasizes the importance of molecular autopsies and family history in diagnosing concealed cardiomyopathies in forensic settings.

## Key findings

- Sudden cardiac death can be the first sign of cardiomyopathy, especially in young individuals.
- Molecular autopsies are essential for identifying occult cardiomyopathies when traditional autopsies are inconclusive.
- Family history and additional testing improve the accuracy of diagnosing concealed cardiomyopathies.

## Abstract

A conclusive and early diagnosis of cardiomyopathy is essential for implementing preventive therapeutic measures and, therefore, reducing the risk of malignant arrhythmias and even sudden cardiac death. Occasionally, this lethal event can be the first manifestation of cardiomyopathy, with or without a clear structural defect. In cases of sudden death, especially in young patients, the autopsy may be ambiguous and therefore lack a definitive diagnosis of cardiomyopathy, although it can sometimes identify signs that lead us to suspect it. This is one of the current challenges of forensic science, where occult cardiomyopathies often remain unidentified without additional testing that is not routinely included in current forensic protocols. In this protocol, it is crucial to perform a molecular autopsy but also to include additional data, especially family history, that will help conclude or at least suspect this entity. Obtaining this diagnosis or suspicion of concealed cardiomyopathy not only provides an answer to the unexpected death but also helps the relatives determine the cause of death. In addition, physicians should initiate a family assessment to identify other family members who may be at risk early and adopt personalized preventive measures.

## Linked entities

- **Diseases:** cardiomyopathy (MONDO:0004994), sudden cardiac death (MONDO:0007264)

## Full-text entities

- **Diseases:** death (MESH:D003643), Cardiomyopathies (MESH:D009202), sudden death (MESH:D003645), malignant arrhythmias (MESH:D001145), sudden cardiac death (MESH:D016757)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

61 references — full list in the complete paper: https://tomesphere.com/paper/PMC12652043/full.md

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Source: https://tomesphere.com/paper/PMC12652043