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Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death

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dc.contributor.authorMorlanes-Gracia, Paula
dc.contributor.authorAntoniutti, Guido
dc.contributor.authorÁlvarez-Rubio, Jorge
dc.contributor.authorTorres-Juan, Laura
dc.contributor.authorHeine-Suñer, Damián
dc.contributor.authorRipoll-Vera, Tomas
dc.date.accessioned2024-09-18T06:42:24Z
dc.date.available2024-09-18T06:42:24Z
dc.date.issued2021-07-01
dc.description.abstractThe NKX2-5 gene encodes for a transcription factor crucial for cardiac cell differentiation and proliferation. It was the first gene associated with congenital heart disease (CHD) in humans and has been linked to conduction disorders or cardiomyopathies. However, an overlapping phenotype is not frequent in the literature. We describe a family with a novel missense mutation in the NKX2-5 gene (p.Gln181Pro) with numerous antecedents with atrial septal defect (ASD), left ventricular non-compaction (LVNC), conduction disease, and sudden cardiac death (SCD).en
dc.description.sponsorshipThe authors thank IdISBa and CIBEROBN, as well as Catalina Mesquida and Yolanda Gomez for their support with data management.es_ES
dc.format.page691203es_ES
dc.format.volume8es_ES
dc.identifier.citationMorlanes-Gracia P, Antoniutti G, Alvarez-Rubio J, Torres-Juan L, Heine-Suner D, Ripoll-Vera T. Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death. Front Cardiovasc Med. 2021 Jul 1;8:691203.en
dc.identifier.doi10.3389/fcvm.2021.691203
dc.identifier.issn2297-055X
dc.identifier.journalFrontiers in Cardiovascular Medicinees_ES
dc.identifier.otherhttps://hdl.handle.net/20.500.13003/19481
dc.identifier.pubmedID34277740es_ES
dc.identifier.urihttps://hdl.handle.net/20.500.12105/23199
dc.identifier.wos674427300001
dc.language.isoengen
dc.publisherFrontiers Media
dc.relation.publisherversionhttps://dx.doi.org/10.3389/fcvm.2021.691203en
dc.rights.accessRightsopen accessen
dc.rights.licenseAttribution 4.0 International*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectNKX2-5
dc.subjectGenetic
dc.subjectCongenital heart disease
dc.subjectSudden cardiac death
dc.subjectLeft ventricular non-compaction
dc.titleCase Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Deathen
dc.typeresearch articleen
dspace.entity.typePublication
relation.isPublisherOfPublication9f9fa5ea-093b-43d8-bf2c-5bd65d08a802
relation.isPublisherOfPublication.latestForDiscovery9f9fa5ea-093b-43d8-bf2c-5bd65d08a802

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