Commotio cordis and L-type calcium channel mutation: Is there a link?
cardiac arrest
commotio cordis
gene
sudden cardiac death
ventricular fibrillation
Journal
Pacing and clinical electrophysiology : PACE
ISSN: 1540-8159
Titre abrégé: Pacing Clin Electrophysiol
Pays: United States
ID NLM: 7803944
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
received:
11
05
2019
revised:
29
05
2019
accepted:
01
06
2019
pubmed:
11
6
2019
medline:
25
8
2020
entrez:
11
6
2019
Statut:
ppublish
Résumé
Commotio cordis is a rare phenomenon when ventricular fibrillation and sudden death occurs with a blunt, nonpenetrating blow to the chest. Individual susceptibility to commotio cordis has been demonstrated in swine models, and might be present in humans as well. We report a case of commotio cordis in an adolescent with a heterozygous mutation on the gene CACNA1C, encoding for an L-type calcium channel expressed in the heart. This genetic mutation has been previously associated with a phenotype of long-QT syndrome; however, this was not demonstrated in our patient despite extensive investigations. To the best of our knowledge, this is the first report of commotio cordis in which an ion-channel gene mutation involved in repolarization abnormalities has been documented. This finding might corroborate the hypothesis that a genetic predisposition plays a role in the individual susceptibility to this rare cause of cardiac arrest.
Substances chimiques
CACNA1C protein, human
0
Calcium Channels, L-Type
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1411-1413Informations de copyright
© 2019 Wiley Periodicals, Inc.
Références
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