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

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 - 1687-9635

VL - 2009

SP - 963645

JO - Case Reports in Medicine

JF - Case Reports in Medicine

ER -