dc.contributor.author
Campuzano Larrea, Oscar
dc.contributor.author
Sarquella Brugada, Geòrgia
dc.contributor.author
Arbelo, Elena
dc.contributor.author
Cesar, Sergi
dc.contributor.author
Jordà, Paloma
dc.contributor.author
Perez-Serra, Alexandra
dc.contributor.author
Toro, Rocío
dc.contributor.author
Brugada Terradellas, Josep
dc.contributor.author
Brugada, Ramon
dc.date.accessioned
2024-05-21T10:39:04Z
dc.date.available
2024-05-21T10:39:04Z
dc.date.issued
2020-06-15
dc.identifier
http://hdl.handle.net/10256/24176
dc.identifier.uri
https://hdl.handle.net/10256/24176
dc.description.abstract
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
dc.format
application/pdf
dc.publisher
MDPI (Multidisciplinary Digital Publishing Institute)
dc.relation
info:eu-repo/semantics/altIdentifier/doi/10.3390/jcm9061866
dc.relation
info:eu-repo/semantics/altIdentifier/eissn/2077-0383
dc.rights
Attribution 4.0 International (CC BY 4.0)
dc.rights
https://creativecommons.org/licenses/by/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.source
Journal of Clinical Medicine, 2020, vol. 9, núm. 6, p. 1866
dc.source
Articles publicats (D-CM)
dc.source
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
dc.subject
Arrítmia -- Aspectes genètics
dc.subject
Arrhythmia -- Genetic aspects
dc.title
Genetic Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
