Molecular autopsy in sudden cardiac death.
Por:
Campuzano O and Sarquella-Brugada G
Publicada:
30 ene 2023
Ahead of Print:
30 ene 2023
Categoría:
Cardiology and cardiovascular medicine
Resumen:
A post-mortem genetic analysis in the process of investigating a sudden
death episode is known as 'molecular autopsy'. It is usually performed
in cases without a conclusive cause of death and after a comprehensive
medico-legal autopsy. In these sudden unexplained death cases, an
underlying inherited arrhythmogenic cardiac disease is the main
suspected cause of death. The objective is to unravel a genetic
diagnosis of the victim, but it also enables cascade genetic screening
of the victim's relatives. Early identification of a deleterious genetic
alteration associated with an inherited arrhythmogenic disease may help
to adopt preventive personalized measures to reduce risk of malignant
arrhythmias and sudden death. It is important to remark that the first
symptom of an inherited arrhythmogenic cardiac disease may the malignant
arrhythmia and even sudden death. Next-generation sequencing allows a
rapid and cost-effectives genetic analysis. Close interaction between
the forensic scientist, pathologist, cardiologist, pediatric
cardiologist and geneticist has allowed a progressive increase of
genetic yield in recent years, identifying the pathogenic genetic
alteration. However, large numbers of rare genetic alterations remain
classified as having an ambiguous role, impeding a proper genetic
interpretation and useful translation into both forensic and
cardiological arena.
Filiaciones:
Campuzano O:
Medical Science Department, School of Medicine, Universitat de Girona, 17003 Girona, Spain
Cardiovascular Genetics Center, University of Girona-IDIBGI, 17190 Girona, Spain
Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain
Sarquella-Brugada G:
Medical Science Department, School of Medicine, Universitat de Girona, 17003 Girona, Spain
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, University of Barcelona, 08950 Barcelona, Spain
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), 1105 AZ Amsterdam, The Netherlands
Arrítmies pediàtriques, Cardiologia Genètica i Mort sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, 08950 Barcelona, Spain
Open Access
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