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

The 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 freq...

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Autores principales: Morlanes-Gracia, Paula, Antoniutti, Guido, Alvarez-Rubio, Jorge, Torres-Juan, Laura, Heine-Suñer, Damian, Ripoll-Vera, Tomás
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8280289/
https://www.ncbi.nlm.nih.gov/pubmed/34277740
http://dx.doi.org/10.3389/fcvm.2021.691203
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author Morlanes-Gracia, Paula
Antoniutti, Guido
Alvarez-Rubio, Jorge
Torres-Juan, Laura
Heine-Suñer, Damian
Ripoll-Vera, Tomás
author_facet Morlanes-Gracia, Paula
Antoniutti, Guido
Alvarez-Rubio, Jorge
Torres-Juan, Laura
Heine-Suñer, Damian
Ripoll-Vera, Tomás
author_sort Morlanes-Gracia, Paula
collection PubMed
description The 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).
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spelling pubmed-82802892021-07-16 Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death Morlanes-Gracia, Paula Antoniutti, Guido Alvarez-Rubio, Jorge Torres-Juan, Laura Heine-Suñer, Damian Ripoll-Vera, Tomás Front Cardiovasc Med Cardiovascular Medicine The 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). Frontiers Media S.A. 2021-07-01 /pmc/articles/PMC8280289/ /pubmed/34277740 http://dx.doi.org/10.3389/fcvm.2021.691203 Text en Copyright © 2021 Morlanes-Gracia, Antoniutti, Alvarez-Rubio, Torres-Juan, Heine-Suñer and Ripoll-Vera. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Cardiovascular Medicine
Morlanes-Gracia, Paula
Antoniutti, Guido
Alvarez-Rubio, Jorge
Torres-Juan, Laura
Heine-Suñer, Damian
Ripoll-Vera, Tomás
Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death
title Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death
title_full Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death
title_fullStr Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death
title_full_unstemmed Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death
title_short Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death
title_sort case report: a novel nkx2-5 mutation in a family with congenital heart defects, left ventricular non-compaction, conduction disease, and sudden cardiac death
topic Cardiovascular Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8280289/
https://www.ncbi.nlm.nih.gov/pubmed/34277740
http://dx.doi.org/10.3389/fcvm.2021.691203
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