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Commotio cordis and L-type calcium channel mutation: Is there a link?

Creta, A; Hanington, O; Lambiase, PD; (2019) Commotio cordis and L-type calcium channel mutation: Is there a link? PACE - Pacing and Clinical Electrophysiology 10.1111/pace.13739. (In press).

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Abstract

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.

Type: Article
Title: Commotio cordis and L-type calcium channel mutation: Is there a link?
DOI: 10.1111/pace.13739
Publisher version: https://doi.org/10.1111/pace.13739
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: commotio cordis; cardiac arrest; ventricular fibrillation; gene; sudden cardiac death.
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science > Clinical Science
URI: https://discovery.ucl.ac.uk/id/eprint/10080642
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