A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease

Anders G Holst; Kirstine Calloe; Thomas Jespersen; Pernille Cedergreen; Bo G Winkel; Henrik Kjaerulf Jensen; Trond P Leren; Stig Haunso; Jesper Hastrup Svendsen; Jacob Tfelt-Hansen

doi:10.1155/2009/963645

A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease

Anders G Holst, Kirstine Calloe, Thomas Jespersen, Pernille Cedergreen, Bo G Winkel, Henrik Kjaerulf Jensen, Trond P Leren, Stig Haunso, Jesper Hastrup Svendsen, Jacob Tfelt-Hansen

Physiology of circulation, kidney and lung

Abstract

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 Na(V)1.5 sodium channel. Surprisingly, voltage-clamp experiments on the wild-type and mutant Na(V)1.5 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.

Original language	English
Journal	Case Reports in Medicine
Volume	2009
Pages (from-to)	963645
DOIs	https://doi.org/10.1155/2009/963645
Publication status	Published - 2009

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@article{36786620328a11df8ed1000ea68e967b,

title = "A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease",

abstract = "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 Na(V)1.5 sodium channel. Surprisingly, voltage-clamp experiments on the wild-type and mutant Na(V)1.5 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.",

author = "Holst, {Anders G} and Kirstine Calloe and Thomas Jespersen and Pernille Cedergreen and Winkel, {Bo G} and Jensen, {Henrik Kjaerulf} and Leren, {Trond P} and Stig Haunso and Svendsen, {Jesper Hastrup} and Jacob Tfelt-Hansen",

year = "2009",

doi = "10.1155/2009/963645",

language = "English",

volume = "2009",

pages = "963645",

journal = "Case Reports in Medicine",

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TY - JOUR

T1 - A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease

AU - Holst, Anders G

AU - Calloe, Kirstine

AU - Jespersen, Thomas

AU - Cedergreen, Pernille

AU - Winkel, Bo G

AU - Jensen, Henrik Kjaerulf

AU - Leren, Trond P

AU - Haunso, Stig

AU - Svendsen, Jesper Hastrup

AU - Tfelt-Hansen, Jacob

PY - 2009

Y1 - 2009

N2 - 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 Na(V)1.5 sodium channel. Surprisingly, voltage-clamp experiments on the wild-type and mutant Na(V)1.5 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.

AB - 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 Na(V)1.5 sodium channel. Surprisingly, voltage-clamp experiments on the wild-type and mutant Na(V)1.5 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.

U2 - 10.1155/2009/963645

DO - 10.1155/2009/963645

M3 - Journal article

C2 - 19829766

SN - 1687-9627

VL - 2009

SP - 963645

JO - Case Reports in Medicine

JF - Case Reports in Medicine

ER -

A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease

Abstract

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