Journal Article

The Role of Molecular Autopsy in Concealed Cardiomyopathies

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

2025

Overview

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.

• Publisher: MDPI AG,Multidisciplinary Digital Publishing Institute (MDPI)
• Subject: Arrhythmia / Autopsies / Autopsy / Autopsy - methods / Cardiac arrhythmia / Cardiomyopathies - diagnosis / Cardiomyopathies - genetics / Cardiomyopathies - pathology / Cardiomyopathy / Death / Death, Sudden, Cardiac - etiology / Death, Sudden, Cardiac - pathology / Diagnosis / Disease / Ethylenediaminetetraacetic acid / Forensic science / Genes / Health aspects / Heart / Humans / Microscopy / Review