The role of ion channelopathies in sudden cardiac death:Implications for clinical practice

Martin, Claire A., Huang, Christopher L.H. and Matthews, Gareth D.K. ORCID: (2013) The role of ion channelopathies in sudden cardiac death:Implications for clinical practice. Annals of Medicine, 45 (4). pp. 364-374. ISSN 0785-3890

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Sudden cardiac death (SCD) following ventricular tachyarrhythmias constitutes an important clinical cause of mortality; 4% of cases may involve ion channel-mediated cellular excitation in structurally normal hearts. Alterations in such processes could disturb action potential conduction, depolarization/ repolarization gradients, or Ca2+ homeostasis with potential arrhythmogenic consequences. Although SCD may be the first presentation of arrhythmic syndromes, patients may present to the general physician with symptoms of palpitations or hemodynamic compromise, including dizziness, seizure, or syncope, particularly following exertion. In all inherited cardiac death syndromes, first-degree relatives should be referred to a cardiologist and should undergo testing appropriate for the condition. While management of patients at risk of SCD largely centers on risk stratification and, if necessary, insertion of an implantable cardioverter-defibrillator, there are a number of other, pharmacological, treatments being developed. Furthermore, as the genetic basis of these diseases becomes established, genetic testing will form an increasingly important part of diagnosis, and gene-specific therapy is an area under investigation. This article bridges the gap between molecular medicine and clinical practice by reviewing recent developments in the pathophysiological understanding of SCD, and their implications for the management of patients with these complex diseases.

Item Type: Article
Additional Information: Funding Information: Heart Foundation, the Medical Research Council, the Wellcome Trust, and the Biotechnology and Biological Research Council, UK. Claire A. Martin was supported by a Medical Research Council Clinical Research Fellowship and a Sackler Studentship of the University of Cambridge School of Clinical Medicine. Gareth D. K. Matthews was supported by the Stanley-Elmore Scholarship, Gonville and Caius College, University of Cambridge and by the Wellcome Trust Translational Medicine and Therapeutics Program, University of Cambridge. The authors report no conflicts of interest.
Uncontrolled Keywords: genetics,implantable cardioverter defibrillator,sudden cardiac death,ventricular arrhythmia,medicine(all) ,/dk/atira/pure/subjectarea/asjc/2700
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
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Depositing User: LivePure Connector
Date Deposited: 10 Nov 2022 13:30
Last Modified: 10 Nov 2022 13:30
DOI: 10.3109/07853890.2013.783994

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