Genetic Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation
dc.contributor.author
dc.date.accessioned
2024-01-29T17:02:41Z
dc.date.available
2024-01-29T17:02:41Z
dc.date.issued
2020-06-15
dc.identifier.uri
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.mimetype
application/pdf
dc.language.iso
eng
dc.publisher
MDPI (Multidisciplinary Digital Publishing Institute)
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Reproducció digital del document publicat a: https://doi.org/10.3390/jcm9061866
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Journal of Clinical Medicine, 2020, vol. 9, núm. 6, p. 1866
dc.relation.ispartofseries
Articles publicats (D-CM)
dc.rights
Attribution 4.0 International (CC BY 4.0)
dc.rights.uri
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.title
Genetic Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation
dc.type
info:eu-repo/semantics/article
dc.rights.accessRights
info:eu-repo/semantics/openAccess
dc.type.version
info:eu-repo/semantics/publishedVersion
dc.identifier.doi
dc.identifier.idgrec
031784
dc.type.peerreviewed
peer-reviewed
dc.identifier.eissn
2077-0383