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AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature
Disease-associated pathogenic variants in the A-Kinase Anchor Protein 9 (AKAP9) (MIM *604001) have been recently identified in patients with autosomal dominant long QT syndrome 11 (MIM #611820), lethal arrhythmia (ventricular fibrillation, polymorphic ventricular tachycardia), Brugada syndrome, and...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690169/ https://www.ncbi.nlm.nih.gov/pubmed/36421840 http://dx.doi.org/10.3390/genes13112167 |
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author | Huynh, Minh-Tuan Proust, Alexis Bouligand, Jérôme Popescu, Elena |
author_facet | Huynh, Minh-Tuan Proust, Alexis Bouligand, Jérôme Popescu, Elena |
author_sort | Huynh, Minh-Tuan |
collection | PubMed |
description | Disease-associated pathogenic variants in the A-Kinase Anchor Protein 9 (AKAP9) (MIM *604001) have been recently identified in patients with autosomal dominant long QT syndrome 11 (MIM #611820), lethal arrhythmia (ventricular fibrillation, polymorphic ventricular tachycardia), Brugada syndrome, and sudden unexpected death. However, AKAP9 sequence variations were rarely reported and AKAP9 was classified as a “disputed evidence” gene to support disease causation due to the insufficient genetic evidence and a limited number of reported AKAP9-mutated patients. Here, we describe a 47-year-old male carrying a novel frameshift AKAP9 pathogenic variant who presented recurrent syncopal attacks and sudden cardiac arrest that required a semi-automatic external defibrillator implant and an electric shock treatment of ventricular arrhythmia. This study provides insight into the mechanism underlying cardiac arrest and confirms that AKAP9 loss-of-function variants predispose to serious, life-threatening ventricular arrhythmias. |
format | Online Article Text |
id | pubmed-9690169 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-96901692022-11-25 AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature Huynh, Minh-Tuan Proust, Alexis Bouligand, Jérôme Popescu, Elena Genes (Basel) Case Report Disease-associated pathogenic variants in the A-Kinase Anchor Protein 9 (AKAP9) (MIM *604001) have been recently identified in patients with autosomal dominant long QT syndrome 11 (MIM #611820), lethal arrhythmia (ventricular fibrillation, polymorphic ventricular tachycardia), Brugada syndrome, and sudden unexpected death. However, AKAP9 sequence variations were rarely reported and AKAP9 was classified as a “disputed evidence” gene to support disease causation due to the insufficient genetic evidence and a limited number of reported AKAP9-mutated patients. Here, we describe a 47-year-old male carrying a novel frameshift AKAP9 pathogenic variant who presented recurrent syncopal attacks and sudden cardiac arrest that required a semi-automatic external defibrillator implant and an electric shock treatment of ventricular arrhythmia. This study provides insight into the mechanism underlying cardiac arrest and confirms that AKAP9 loss-of-function variants predispose to serious, life-threatening ventricular arrhythmias. MDPI 2022-11-20 /pmc/articles/PMC9690169/ /pubmed/36421840 http://dx.doi.org/10.3390/genes13112167 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Huynh, Minh-Tuan Proust, Alexis Bouligand, Jérôme Popescu, Elena AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature |
title | AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature |
title_full | AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature |
title_fullStr | AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature |
title_full_unstemmed | AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature |
title_short | AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature |
title_sort | akap9-related channelopathy: novel pathogenic variant and review of the literature |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690169/ https://www.ncbi.nlm.nih.gov/pubmed/36421840 http://dx.doi.org/10.3390/genes13112167 |
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