![](/images/graphics-bg.png)
A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease
Joint Authors
Svendsen, Jesper Hastrup
Cedergreen, Pernille
Leren, Trond P.
Jespersen, Thomas
Tfelt-Hansen, Jacob
Calloe, Kirstine
Jensen, Henrik Kjaerulf
Winkel, Bo G.
Holst, Anders G.
Haunso, Stig
Source
Issue
Vol. 2009, Issue 2009 (31 Dec. 2009), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2009-10-13
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Brugada syndrome (BrS) is a primary electrical heart disease, which can lead to sudden cardiac death.
In older patients with BrS, the disease may coexist with ischaemic heart disease (IHD) and recent studies support a synergistic proarrhythmic effect of the two disease entities.
We report a case that illustrates this.
The index patient was a middle-aged patient with BrS traits, IHD, and aborted sudden cardiac death.
Mutation analysis discovered a novel mutation P468L in the NaV1.5 sodium channel.
Surprisingly, voltage-clamp experiments on the wild-type and mutant NaV1.5 channels expressed in HEK cells revealed no functional effect of the mutation.
In a patient like ours, the distinction between IHD and BrS as the cause of an aborted sudden cardiac death is hard to establish and mounting evidence shows that coexistence of the two may have a synergistic proarrhythmic effect.
American Psychological Association (APA)
Holst, Anders G.& Calloe, Kirstine& Jespersen, Thomas& Cedergreen, Pernille& Winkel, Bo G.& Jensen, Henrik Kjaerulf…[et al.]. 2009. A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease. Case Reports in Medicine،Vol. 2009, no. 2009, pp.1-4.
https://search.emarefa.net/detail/BIM-511880
Modern Language Association (MLA)
Holst, Anders G.…[et al.]. A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease. Case Reports in Medicine No. 2009 (2009), pp.1-4.
https://search.emarefa.net/detail/BIM-511880
American Medical Association (AMA)
Holst, Anders G.& Calloe, Kirstine& Jespersen, Thomas& Cedergreen, Pernille& Winkel, Bo G.& Jensen, Henrik Kjaerulf…[et al.]. A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease. Case Reports in Medicine. 2009. Vol. 2009, no. 2009, pp.1-4.
https://search.emarefa.net/detail/BIM-511880
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-511880