A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease
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A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease. / Holst, Anders G; Calloe, Kirstine; Jespersen, Thomas; Cedergreen, Pernille; Winkel, Bo G; Jensen, Henrik Kjaerulf; Leren, Trond P; Haunso, Stig; Svendsen, Jesper Hastrup; Tfelt-Hansen, Jacob.
In: Case Reports in Medicine, Vol. 2009, 2009, p. 963645.Research output: Contribution to journal › Journal article › Research › peer-review
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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
VL - 2009
SP - 963645
JO - Case Reports in Medicine
JF - Case Reports in Medicine
SN - 1687-9627
ER -
ID: 18693486