Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A

Research output: Contribution to journalJournal articleResearchpeer-review

Standard

Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A. / Tfelt-Hansen, J; Jespersen, T; Hofman-Bang, J; Rasmussen, H Borger; Cedergreen, P; Skovby, F; Abriel, H; Svendsen, J Hastrup; Olesen, Soren-Peter; Christiansen, M; Haunso, S.

In: Canadian Journal of Cardiology, Vol. 25, No. 3, 2009, p. 156-60.

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Tfelt-Hansen, J, Jespersen, T, Hofman-Bang, J, Rasmussen, HB, Cedergreen, P, Skovby, F, Abriel, H, Svendsen, JH, Olesen, S-P, Christiansen, M & Haunso, S 2009, 'Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A', Canadian Journal of Cardiology, vol. 25, no. 3, pp. 156-60.

APA

Tfelt-Hansen, J., Jespersen, T., Hofman-Bang, J., Rasmussen, H. B., Cedergreen, P., Skovby, F., ... Haunso, S. (2009). Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A. Canadian Journal of Cardiology, 25(3), 156-60.

Vancouver

Tfelt-Hansen J, Jespersen T, Hofman-Bang J, Rasmussen HB, Cedergreen P, Skovby F et al. Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A. Canadian Journal of Cardiology. 2009;25(3):156-60.

Author

Tfelt-Hansen, J ; Jespersen, T ; Hofman-Bang, J ; Rasmussen, H Borger ; Cedergreen, P ; Skovby, F ; Abriel, H ; Svendsen, J Hastrup ; Olesen, Soren-Peter ; Christiansen, M ; Haunso, S. / Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A. In: Canadian Journal of Cardiology. 2009 ; Vol. 25, No. 3. pp. 156-60.

Bibtex

@article{99d7ef40328c11df8ed1000ea68e967b,
title = "Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A",
abstract = "The aim of the present study was to identify the molecular mechanism behind ventricular tachycardia in a patient with Brugada syndrome. Arrhythmias in patients with Brugada syndrome often occur during sleep. However, a 28-year-old man with no previously documented arrhythmia or syncope who experienced shortness of breath and chest pain during agitation is described. An electrocardiogram revealed monomorphic ventricular tachycardia; after he was converted to nodal rhythm, he spontaneously went into sinus rhythm, and showed classic Brugada changes with coved ST elevation in leads V(1) to V(2). Mutation analysis of SCN5A revealed a novel mutation, 3480 deletion T frame shift mutation, resulting in premature truncation of the protein. Heterologous expression of this truncated protein in human embryonic kidney 293 cells showed a markedly reduced protein expression level. By performing whole-cell patch clamp experiments using human embryonic kidney 293 cells transfected with the mutated SCN5A, no current could be recorded. Hence, the results suggest that the patient suffered from haploinsufficiency of Na(v)1.5, and that this mutation was the cause of his Brugada syndrome.",
author = "J Tfelt-Hansen and T Jespersen and J Hofman-Bang and Rasmussen, {H Borger} and P Cedergreen and F Skovby and H Abriel and Svendsen, {J Hastrup} and Soren-Peter Olesen and M Christiansen and S Haunso",
note = "Keywords: Adult; Brugada Syndrome; Chromosome Deletion; Electrocardiography; Frameshift Mutation; Humans; Male; Muscle Proteins; Patch-Clamp Techniques; Pedigree; Polymorphism, Single-Stranded Conformational; Sodium Channels; Tachycardia, Ventricular; Transfection",
year = "2009",
language = "English",
volume = "25",
pages = "156--60",
journal = "Canadian Journal of Cardiology",
issn = "0828-282X",
publisher = "Elsevier",
number = "3",

}

RIS

TY - JOUR

T1 - Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A

AU - Tfelt-Hansen, J

AU - Jespersen, T

AU - Hofman-Bang, J

AU - Rasmussen, H Borger

AU - Cedergreen, P

AU - Skovby, F

AU - Abriel, H

AU - Svendsen, J Hastrup

AU - Olesen, Soren-Peter

AU - Christiansen, M

AU - Haunso, S

N1 - Keywords: Adult; Brugada Syndrome; Chromosome Deletion; Electrocardiography; Frameshift Mutation; Humans; Male; Muscle Proteins; Patch-Clamp Techniques; Pedigree; Polymorphism, Single-Stranded Conformational; Sodium Channels; Tachycardia, Ventricular; Transfection

PY - 2009

Y1 - 2009

N2 - The aim of the present study was to identify the molecular mechanism behind ventricular tachycardia in a patient with Brugada syndrome. Arrhythmias in patients with Brugada syndrome often occur during sleep. However, a 28-year-old man with no previously documented arrhythmia or syncope who experienced shortness of breath and chest pain during agitation is described. An electrocardiogram revealed monomorphic ventricular tachycardia; after he was converted to nodal rhythm, he spontaneously went into sinus rhythm, and showed classic Brugada changes with coved ST elevation in leads V(1) to V(2). Mutation analysis of SCN5A revealed a novel mutation, 3480 deletion T frame shift mutation, resulting in premature truncation of the protein. Heterologous expression of this truncated protein in human embryonic kidney 293 cells showed a markedly reduced protein expression level. By performing whole-cell patch clamp experiments using human embryonic kidney 293 cells transfected with the mutated SCN5A, no current could be recorded. Hence, the results suggest that the patient suffered from haploinsufficiency of Na(v)1.5, and that this mutation was the cause of his Brugada syndrome.

AB - The aim of the present study was to identify the molecular mechanism behind ventricular tachycardia in a patient with Brugada syndrome. Arrhythmias in patients with Brugada syndrome often occur during sleep. However, a 28-year-old man with no previously documented arrhythmia or syncope who experienced shortness of breath and chest pain during agitation is described. An electrocardiogram revealed monomorphic ventricular tachycardia; after he was converted to nodal rhythm, he spontaneously went into sinus rhythm, and showed classic Brugada changes with coved ST elevation in leads V(1) to V(2). Mutation analysis of SCN5A revealed a novel mutation, 3480 deletion T frame shift mutation, resulting in premature truncation of the protein. Heterologous expression of this truncated protein in human embryonic kidney 293 cells showed a markedly reduced protein expression level. By performing whole-cell patch clamp experiments using human embryonic kidney 293 cells transfected with the mutated SCN5A, no current could be recorded. Hence, the results suggest that the patient suffered from haploinsufficiency of Na(v)1.5, and that this mutation was the cause of his Brugada syndrome.

M3 - Journal article

C2 - 19279983

VL - 25

SP - 156

EP - 160

JO - Canadian Journal of Cardiology

JF - Canadian Journal of Cardiology

SN - 0828-282X

IS - 3

ER -

ID: 18693789