RT journal article
T1 The Role of Molecular Autopsy in Concealed Cardiomyopathies
A1 Campuzano, Oscar
A1 Tiron, Coloma
A1 Martínez  Barrios, Estefanía
A1 Greco, Andrea
A1 Cruzalegui, José
A1 Chipa, Fredy
A1 Cesar, Sergi
A1 Merchan, Erika Fernanda
A1 Coll, Mónica
A1 Fernández Falgueras, Anna
A1 Brugada, Ramón
A1 Ortega, Marisa
A1 Molina, Núria
A1 Barberia, Eneko
A1 Toro Cebada, Rocío
A1 Oliva, Antonio
A1 Grassi, Simone
A1 Sarquella-Brugada, Georgia
A2 Cirugía
A2 Medicina
K1 molecular autopsy
K1 genetics
K1 concealed cardiomyopathies
K1 arrhythmias
K1 sudden cardiac death
K1 forensics
AB 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.
PB Multidisciplinary Digital Publishing Institute (MDPI)
SN 2073-4425
YR 2025
FD 2025-10
LK http://hdl.handle.net/10498/39555
UL http://hdl.handle.net/10498/39555
LA eng
DS Repositorio Institucional de la Universidad de Cádiz
RD 05-nov-2026