2026-04-17T01:44:54Zhttps://recercat.cat/oai/request

oai:recercat.cat:10256/241762024-05-21T10:39:04Zcom_2072_452955com_2072_2054col_2072_452960

00925njm 22002777a 4500 dc Campuzano Larrea, Oscar author Sarquella Brugada, Geòrgia author Arbelo, Elena author Cesar, Sergi author Jordà, Paloma author Perez-Serra, Alexandra author Toro, Rocío author Brugada Terradellas, Josep author Brugada, Ramon author 2020-06-15 Inherited arrhythmogenic syndromes are the primary cause of unexpected lethal cardiac episodes in young people. It is possible that the first sign of the condition may be sudden death. Inherited arrhythmogenic syndromes are caused by genetic defects that may be analyzed using different technical approaches. A genetic alteration may be used as a marker of risk for families who carry the genetic alterations. Therefore, the early identification of the responsible genetic defect may help the adoption of preventive therapeutic measures focused on reducing the risk of lethal arrhythmias. Here, we describe the use of massive sequencing technologies and the interpretation of genetic analyses in inherited arrhythmogenic syndromes http://hdl.handle.net/10256/24176 Mort sobtada Sudden death Arrítmia -- Aspectes genètics Arrhythmia -- Genetic aspects Genetic Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation