Article
Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.
International journal of legal medicine - 1 Mar 2023
Martinez-Barrios Estefanía, Sarquella-Brugada Georgia, Perez-Serra Alexandra, Fernandez-Falgueras Anna, Cesar Sergi, Alcalde Mireia, Coll Mónica, Puigmulé Marta, Iglesias Anna, Ferrer-Costa Carles, Del Olmo Bernat, Picó Ferran, Lopez Laura, Fiol Victoria, Cruzalegui José, Hernandez Clara, Arbelo Elena, Díez-Escuté Nuria, Cerralbo Patricia, Grassi Simone, Oliva Antonio, Toro Rocío, Brugada Josep, Brugada Ramon, Campuzano Oscar
Abstract excerpt
Sudden death cases in the young population remain without a conclusive cause of decease in almost 40% of cases. In these situations, cardiac arrhythmia of genetic origin is suspected as the most plausible cause of death. Molecular autopsy may reveal a genetic defect in up to 20% of families. Most than 80% of rare variants remain classified with an ambiguous role, impeding a useful clinical translation. Our aim...
Topics
- Humans
- Death, Sudden
- Arrhythmias, Cardiac
- Mutation
- Gene Frequency
- Autopsy
- Death, Sudden, Cardiac