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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...

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Autores principales: Huynh, Minh-Tuan, Proust, Alexis, Bouligand, Jérôme, Popescu, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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.
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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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