2026-04-17T01:08:13Zhttps://recercat.cat/oai/requestoai:recercat.cat:10256/241762024-05-21T10:39:04Zcom_2072_452955com_2072_2054col_2072_452960
Genetic Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation
Campuzano Larrea, Oscar
Sarquella Brugada, Geòrgia
Arbelo, Elena
Cesar, Sergi
Jordà, Paloma
Perez-Serra, Alexandra
Toro, Rocío
Brugada Terradellas, Josep
Brugada, Ramon
Mort sobtada
Sudden death
Arrítmia -- Aspectes genètics
Arrhythmia -- Genetic aspects
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
2024-05-21T10:39:04Z
2024-05-21T10:39:04Z
2024-05-21T10:39:04Z
2020-06-15
info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
peer-reviewed
http://hdl.handle.net/10256/24176
info:eu-repo/semantics/altIdentifier/doi/10.3390/jcm9061866
info:eu-repo/semantics/altIdentifier/eissn/2077-0383
Attribution 4.0 International (CC BY 4.0)
https://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
MDPI (Multidisciplinary Digital Publishing Institute)
Journal of Clinical Medicine, 2020, vol. 9, núm. 6, p. 1866
Articles publicats (D-CM)
Campuzano Larrea, Oscar Sarquella Brugada, Geòrgia Arbelo, Elena Cesar, Sergi Jordà, paloma Pérez-Serra, Alexandra Toro, Rocío Brugada Terradellas, Josep Brugada, Ramon 2020 Genetic Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation Journal of Clinical Medicine 9 6 1866