{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T03:09:01Z","timestamp":1782184141072,"version":"3.54.5"},"reference-count":16,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2022,11,20]],"date-time":"2022-11-20T00:00:00Z","timestamp":1668902400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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 \u201cdisputed evidence\u201d 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.<\/jats:p>","DOI":"10.3390\/genes13112167","type":"journal-article","created":{"date-parts":[[2022,11,21]],"date-time":"2022-11-21T03:09:30Z","timestamp":1669000170000},"page":"2167","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9183-7345","authenticated-orcid":false,"given":"Minh-Tuan","family":"Huynh","sequence":"first","affiliation":[{"name":"Centre Hospitalier du Havre, Unit\u00e9 de G\u00e9n\u00e9tique Clinique, 29 Avenue Pierre Mend\u00e8s-France, 76290 Montivilliers, France"},{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, Pharmacog\u00e9n\u00e9tique et Hormonologie, H\u00f4pital Bic\u00eatre, APHP Universit\u00e9 Paris Saclay, 94270 Le Kremlin-Bic\u00eatre, France; Inserm UMR_S 1185, Facult\u00e9 de M\u00e9decine Paris Saclay, Universit\u00e9 Paris Saclay, 94270 Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis","family":"Proust","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, Pharmacog\u00e9n\u00e9tique et Hormonologie, H\u00f4pital Bic\u00eatre, APHP Universit\u00e9 Paris Saclay, 94270 Le Kremlin-Bic\u00eatre, France; Inserm UMR_S 1185, Facult\u00e9 de M\u00e9decine Paris Saclay, Universit\u00e9 Paris Saclay, 94270 Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00e9r\u00f4me","family":"Bouligand","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, Pharmacog\u00e9n\u00e9tique et Hormonologie, H\u00f4pital Bic\u00eatre, APHP Universit\u00e9 Paris Saclay, 94270 Le Kremlin-Bic\u00eatre, France; Inserm UMR_S 1185, Facult\u00e9 de M\u00e9decine Paris Saclay, Universit\u00e9 Paris Saclay, 94270 Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Popescu","sequence":"additional","affiliation":[{"name":"Centre Hospitalier du Havre, Service de Cardiologie, 29 Avenue Pierre Mend\u00e8s-France, 76290 Montivilliers, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1536\/ihj.16-133","article-title":"Gene-targeted Analysis of Clinically Diagnosed Long QT Russian Families","volume":"58","author":"Maltese","year":"2017","journal-title":"Int. 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