Disordered repolarisation and sudden cardiac death: living on the edge
Prof. Jules Hancox (School of Physiology, Pharmacology and Neuroscience, University of Bristol)
A Snapshot seminar hosted by the School of Physiology, Pharmacology and Neuroscience
The process of cardiac action potential repolarisation depends on the integrated activity of a range of ion channels and electrogenic transporters in cardiac myocytes. Mutations to cardiac ion channel genes can disturb this process, leading to ECG changes and increased risks of arrhythmia and of sudden cardiac death (SCD). Patients found to have abnormal repolarisation but structurally normal hearts typically undergo genotyping, but there are challenges in demonstrating causation between variants identified through this process and the observed clinical phenotype. In this talk I will discuss established and developing approaches used to interrogate cardiac potassium channel variants identified clinically and consider the challenge of meeting criteria required for definitive variant classification. Some of the issues to be discussed may also be relevant at the basic-clinical interface of other conditions caused by heritable gene mutations. Time allowing, and following the repolarisation theme, I may also present recent results that highlight a key cardiac potassium channel as a target for a ubiquitous hydrocarbon pollutant.
Contact Cherrie Kong with any enquiries.