@misc{10498/39555,
year = {2025},
month = {10},
url = {http://hdl.handle.net/10498/39555},
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.},
publisher = {Multidisciplinary Digital Publishing Institute (MDPI)},
keywords = {molecular autopsy},
keywords = {genetics},
keywords = {concealed cardiomyopathies},
keywords = {arrhythmias},
keywords = {sudden cardiac death},
keywords = {forensics},
title = {The Role of Molecular Autopsy in Concealed Cardiomyopathies},
doi = {10.3390/GENES16111273},
author = {Campuzano, Oscar and Tiron, Coloma and Martínez  Barrios, Estefanía and Greco, Andrea and Cruzalegui, José and Chipa, Fredy and Cesar, Sergi and Merchan, Erika Fernanda and Coll, Mónica and Fernández Falgueras, Anna and Brugada, Ramón and Ortega, Marisa and Molina, Núria and Barberia, Eneko and Toro Cebada, Rocío and Oliva, Antonio and Grassi, Simone and Sarquella-Brugada, Georgia},
}