Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns
dc.contributor.author
dc.date.accessioned
2021-06-17T11:55:47Z
dc.date.available
2021-06-17T11:55:47Z
dc.date.issued
2021-06-16
dc.identifier.uri
dc.description.abstract
Congenital heart disease is a group of pathologies characterized by structural malformations of the heart or great vessels. These alterations occur during the embryonic period and are the most frequently observed severe congenital malformations, the main cause of neonatal mortality due to malformation, and the second most frequent congenital malformations overall after malformations of the central nervous system. The severity of different types of congenital heart disease varies depending on the combination of associated anatomical defects. The causes of these malformations are usually considered multifactorial, but genetic variants play a key role. Currently, use of high-throughput genetic technologies allows identification of pathogenic aneuploidies, deletions/duplications of large segments, as well as rare single nucleotide variants. The high incidence of congenital heart disease as well as the associated complications makes it necessary to establish a diagnosis as early as possible to adopt the most appropriate measures in a personalized approach. In this review, we provide an exhaustive update of the genetic bases of the most frequent congenital heart diseases as well as other syndromes associated with congenital heart defects, and how genetic data can be translated to clinical practice in a personalized approach
dc.format.mimetype
application/pdf
dc.language.iso
eng
dc.publisher
MDPI (Multidisciplinary Digital Publishing Institute)
dc.relation.isformatof
Reproducció digital del document publicat a: https://doi.org/10.3390/jpm11060562
dc.relation.ispartof
Journal of Personalized Medicine, 2021, vol. 11, núm. 6, p. 562
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Articles publicats (D-CM)
dc.rights
Attribution 4.0 International
dc.rights.uri
dc.title
Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns
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.type.peerreviewed
peer-reviewed
dc.identifier.eissn
2075-4426