Brugada syndrome & AKAP9: Reconciling clinical findings with diagnostic uncertainty.
Journal
Journal of electrocardiology
ISSN: 1532-8430
Titre abrégé: J Electrocardiol
Pays: United States
ID NLM: 0153605
Informations de publication
Date de publication:
Historique:
received:
20
06
2019
revised:
30
08
2019
accepted:
05
09
2019
pubmed:
28
10
2019
medline:
22
6
2021
entrez:
27
10
2019
Statut:
ppublish
Résumé
Brugada Syndrome typically presents with sudden nocturnal arrhythmias. Diagnosis may be challenging due to variable and transient electrocardiogram patterns and nondiagnostic provocation studies. Genetic testing can establish the etiology, but results may be inconclusive with variants of uncertain significance. A 24-year-old male with family history of sudden cardiac death was found unresponsive due to seizure. He was hemodynamically stable. ECG showed saddle-back ST elevations in V1 and V2. Procainamide challenge was negative. We subsequently performed genetic testing, which demonstrated AKAP9 variant. AKAP9 is a scaffolding protein that facilitates phosphorylation of delayed-rectifier potassium channels. The AKAP9 variant alters potassium current causing disordered repolarization and ventricular reentry. It has been previously linked to other channelopathies, but its pathogenicity is fully undetermined. Genetic testing is a useful tool to determine the origin of channelopathy, but inconclusive results with variants of uncertain significance should be clinically correlated.
Identifiants
pubmed: 31654968
pii: S0022-0736(19)30475-3
doi: 10.1016/j.jelectrocard.2019.09.013
pii:
doi:
Substances chimiques
A Kinase Anchor Proteins
0
AKAP9 protein, human
0
Cytoskeletal Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
119-121Informations de copyright
Copyright © 2019 Elsevier Inc. All rights reserved.