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

Anders G Holst; Bo Liang; Thomas Jespersen; Henning Bundgaard; Stig Haunso; Jesper Hastrup Svendsen; Jacob Tfelt-Hansen

doi:10.1159/000312747

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

Anders G Holst, Bo Liang, Thomas Jespersen, Henning Bundgaard, Stig Haunso, Jesper Hastrup Svendsen, Jacob Tfelt-Hansen

15 Citations (Scopus)

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.

Original language	English
Journal	Cardiology
Volume	115
Issue number	4
Pages (from-to)	311-6
Number of pages	6
ISSN	0008-6312
DOIs	https://doi.org/10.1159/000312747
Publication status	Published - Apr 2010

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10.1159/000312747

Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutationFinal published version, 953 KB

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Cite this

@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",

month = apr,

doi = "10.1159/000312747",

language = "English",

volume = "115",

pages = "311--6",

journal = "Cardiologia",

issn = "0008-6312",

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number = "4",

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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 - 2010/4

Y1 - 2010/4

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

SN - 0008-6312

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SP - 311

EP - 316

JO - Cardiologia

JF - Cardiologia

IS - 4

ER -

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

Abstract

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