Institutional Research Information Service
UCL Logo
Please report any queries concerning the funding data grouped in the sections named "Externally Awarded" or "Internally Disbursed" (shown on the profile page) to your Research Finance Administrator. Your can find your Research Finance Administrator at https://www.ucl.ac.uk/finance/research/rs-contacts.php by entering your department
Please report any queries concerning the student data shown on the profile page to:

Email: portico-services@ucl.ac.uk

Help Desk: http://www.ucl.ac.uk/ras/portico/helpdesk
Publication Detail
Commotio cordis and L-type calcium channel mutation: Is there a link?
© 2019 Wiley Periodicals, Inc. 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.
Publication data is maintained in RPS. Visit https://rps.ucl.ac.uk
 More search options
UCL Researchers
Clinical Science
University College London - Gower Street - London - WC1E 6BT Tel:+44 (0)20 7679 2000

© UCL 1999–2011

Search by