A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6

We report a 37-year-old woman with an out-of-hospital cardiac arrest caused by ventricular fibrillation due to digenic inheritance of long QT syndrome type 2 (KCNH2 gene) and type 6 (KCNE2 gene). During hospitalization, prolonged QTc intervals and frequent episodes of ventricular tachyarrhythmias ma...

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Detalles Bibliográficos
Autores principales: Heida, Annejet, van der Does, Lisette J. M. E., Ragab, Ahmed A. Y., de Groot, Natasja M. S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6610752/
https://www.ncbi.nlm.nih.gov/pubmed/31320904
http://dx.doi.org/10.1155/2019/1384139
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author Heida, Annejet
van der Does, Lisette J. M. E.
Ragab, Ahmed A. Y.
de Groot, Natasja M. S.
author_facet Heida, Annejet
van der Does, Lisette J. M. E.
Ragab, Ahmed A. Y.
de Groot, Natasja M. S.
author_sort Heida, Annejet
collection PubMed
description We report a 37-year-old woman with an out-of-hospital cardiac arrest caused by ventricular fibrillation due to digenic inheritance of long QT syndrome type 2 (KCNH2 gene) and type 6 (KCNE2 gene). During hospitalization, prolonged QTc intervals and frequent episodes of ventricular tachyarrhythmias manifested. Genetic testing identified a mutation of the KCNH2 gene and an unclassified variant, most likely pathogenic, of the KCNE2 gene. This digenic inheritance is extremely rare.
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spelling pubmed-66107522019-07-18 A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6 Heida, Annejet van der Does, Lisette J. M. E. Ragab, Ahmed A. Y. de Groot, Natasja M. S. Case Rep Med Case Report We report a 37-year-old woman with an out-of-hospital cardiac arrest caused by ventricular fibrillation due to digenic inheritance of long QT syndrome type 2 (KCNH2 gene) and type 6 (KCNE2 gene). During hospitalization, prolonged QTc intervals and frequent episodes of ventricular tachyarrhythmias manifested. Genetic testing identified a mutation of the KCNH2 gene and an unclassified variant, most likely pathogenic, of the KCNE2 gene. This digenic inheritance is extremely rare. Hindawi 2019-06-20 /pmc/articles/PMC6610752/ /pubmed/31320904 http://dx.doi.org/10.1155/2019/1384139 Text en Copyright © 2019 Annejet Heida et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Heida, Annejet
van der Does, Lisette J. M. E.
Ragab, Ahmed A. Y.
de Groot, Natasja M. S.
A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6
title A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6
title_full A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6
title_fullStr A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6
title_full_unstemmed A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6
title_short A Rare Case of the Digenic Inheritance of Long QT Syndrome Type 2 and Type 6
title_sort rare case of the digenic inheritance of long qt syndrome type 2 and type 6
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6610752/
https://www.ncbi.nlm.nih.gov/pubmed/31320904
http://dx.doi.org/10.1155/2019/1384139
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