Heart rhythm : the official journal of the Heart Rhythm Society
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Case Reports
A novel SCN5A mutation V1340I in Brugada syndrome augmenting arrhythmias during febrile illness.
Mutations in the SCN5A gene, which encodes the cardiac sodium channel, have been implicated in the pathogenesis of Brugada syndrome (BrS). Febrile illnesses have been recognized to unmask and/or trigger the BrS phenotype. However, the pathophysiological mechanism has not been fully elucidated. ⋯ Our study supports the concept that febrile illness predisposes individuals who carry a loss of function SCN5A mutation, such as V1340I, to fever-induced ventricular arrhythmias in BrS by significantly reducing the sodium currents in the hyperthermic state.
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Worldwide, the Brugada syndrome has been recognized as an important cause of sudden cardiac death in individuals at a relatively young age. Importantly, many drugs have been reported to induce the characteristic Brugada syndrome-linked ECG abnormalities and/or (fatal) ventricular tachyarrhythmias. ⋯ Many drugs have been associated with adverse events in Brugada syndrome patients. We have initiated a website (www.brugadadrugs.org) to ensure worldwide availability of information on safe drug use in Brugada syndrome patients.
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Paroxysmal atrioventricular block (AVB) is a poorly defined clinical entity characterized by abrupt and unexpected change from 1:1 atrioventricular conduction to complete heart block, leading to syncope and potential sudden cardiac death. Although a dangerous condition because of unreliable escape mechanism, proper diagnosis of paroxysmal AVB is often missed and overlooked because of its unfamiliarity, unpredictability, and in some cases, no clear evidence of atrioventricular conduction disease during normal 1:1 conduction.