Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation

Research output: Contribution to journal › Journal article › Research › peer-review

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Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation. / Holst, Anders G; Liang, Bo; Jespersen, Thomas; Bundgaard, Henning; Haunso, Stig; Svendsen, Jesper Hastrup; Tfelt-Hansen, Jacob.

In: Cardiology, Vol. 115, No. 4, 2010, p. 311-6.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Holst, AG, Liang, B, Jespersen, T, Bundgaard, H, Haunso, S, Svendsen, JH & Tfelt-Hansen, J 2010, 'Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation', Cardiology, vol. 115, no. 4, pp. 311-6. https://doi.org/10.1159/000312747

APA

Holst, A. G., Liang, B., Jespersen, T., Bundgaard, H., Haunso, S., Svendsen, J. H., & Tfelt-Hansen, J. (2010). Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation. Cardiology, 115(4), 311-6. https://doi.org/10.1159/000312747

Vancouver

Holst AG, Liang B, Jespersen T, Bundgaard H, Haunso S, Svendsen JH et al. Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation. Cardiology. 2010;115(4):311-6. https://doi.org/10.1159/000312747

Author

Holst, Anders G ; Liang, Bo ; Jespersen, Thomas ; Bundgaard, Henning ; Haunso, Stig ; Svendsen, Jesper Hastrup ; Tfelt-Hansen, Jacob. / Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation. In: Cardiology. 2010 ; Vol. 115, No. 4. pp. 311-6.

Bibtex

@article{826c4ca0a2ff11df928f000ea68e967b,
title = "Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation",
abstract = "Mutations in the cardiac sodium channel encoded by the gene SCN5A can result in a wide array of phenotypes. We report a case of a young male with a novel SCN5A mutation (R121W) afflicted by sick sinus syndrome, progressive cardiac conduction disorder, atrial flutter and ventricular tachycardia. His father carried the same mutation, but had a milder phenotype, presenting with progressive cardiac conduction later in life. The mutation was found to result in a loss-of-function in the sodium current. In conclusion, the same SCN5A mutation can result in a wide array of clinical phenotypes and perhaps the spectrum of SCN5A loss-of-function associated disease entities should be viewed as one syndrome.",
author = "Holst, {Anders G} and Bo Liang and Thomas Jespersen and Henning Bundgaard and Stig Haunso and Svendsen, {Jesper Hastrup} and Jacob Tfelt-Hansen",
note = "Keywords: Adult; Atrial Flutter; Disease Progression; Electrocardiography; Family Health; Female; Humans; Male; Muscle Proteins; Mutation, Missense; Pedigree; Phenotype; Sick Sinus Syndrome; Sodium Channels; Tachycardia, Ventricular",
year = "2010",
doi = "10.1159/000312747",
language = "English",
volume = "115",
pages = "311--6",
journal = "Cardiologia",
issn = "0008-6312",
publisher = "S Karger AG",
number = "4",

}

RIS

TY - JOUR

T1 - Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation

AU - Holst, Anders G

AU - Liang, Bo

AU - Jespersen, Thomas

AU - Bundgaard, Henning

AU - Haunso, Stig

AU - Svendsen, Jesper Hastrup

AU - Tfelt-Hansen, Jacob

N1 - Keywords: Adult; Atrial Flutter; Disease Progression; Electrocardiography; Family Health; Female; Humans; Male; Muscle Proteins; Mutation, Missense; Pedigree; Phenotype; Sick Sinus Syndrome; Sodium Channels; Tachycardia, Ventricular

PY - 2010

Y1 - 2010

N2 - Mutations in the cardiac sodium channel encoded by the gene SCN5A can result in a wide array of phenotypes. We report a case of a young male with a novel SCN5A mutation (R121W) afflicted by sick sinus syndrome, progressive cardiac conduction disorder, atrial flutter and ventricular tachycardia. His father carried the same mutation, but had a milder phenotype, presenting with progressive cardiac conduction later in life. The mutation was found to result in a loss-of-function in the sodium current. In conclusion, the same SCN5A mutation can result in a wide array of clinical phenotypes and perhaps the spectrum of SCN5A loss-of-function associated disease entities should be viewed as one syndrome.

AB - Mutations in the cardiac sodium channel encoded by the gene SCN5A can result in a wide array of phenotypes. We report a case of a young male with a novel SCN5A mutation (R121W) afflicted by sick sinus syndrome, progressive cardiac conduction disorder, atrial flutter and ventricular tachycardia. His father carried the same mutation, but had a milder phenotype, presenting with progressive cardiac conduction later in life. The mutation was found to result in a loss-of-function in the sodium current. In conclusion, the same SCN5A mutation can result in a wide array of clinical phenotypes and perhaps the spectrum of SCN5A loss-of-function associated disease entities should be viewed as one syndrome.

U2 - 10.1159/000312747

DO - 10.1159/000312747

M3 - Journal article

C2 - 20395683

VL - 115

SP - 311

EP - 316

JO - Cardiologia

JF - Cardiologia

SN - 0008-6312

IS - 4

ER -

ID: 21258770