A novel mutation (Arg169Gln) of the cardiac ryanodine receptor gene causing exercise-induced bidirectional ventricular tachycardia

Chia Hsiang Hsueh; Yi Chun Weng; Chao Yu Chen; Tin Kwang Lin; Yen Hung Lin; Ling Ping Lai; Jiunn Lee Lin

doi:10.1016/j.ijcard.2005.02.051

A novel mutation (Arg169Gln) of the cardiac ryanodine receptor gene causing exercise-induced bidirectional ventricular tachycardia

Chia Hsiang Hsueh, Yi Chun Weng, Chao Yu Chen, Tin Kwang Lin, Yen Hung Lin, Ling Ping Lai, Jiunn Lee Lin

Research output: Contribution to journal › Article › peer-review

20 Citations (Scopus)

Abstract

An 18-year-old woman presented with exercise induced sudden collapse. Series of cardiac work up revealed no structural cardiac abnormalities. Bidirectional ventricular tachycardia occurred during a treadmill exercise test. Under the impression of catecholaminergic polymorphic ventricular tachycardia, we screened the cardiac ryanodine receptor gene for mutation. We identified a novel heterozygous mutation at the 169th amino acid (Arg169Gln). This amino acid is highly conserved among many species and this mutation was not present in 50 normal control subjects. This patient was treated with a β-block with good response.

Original language	English
Pages (from-to)	276-278
Number of pages	3
Journal	International Journal of Cardiology
Volume	108
Issue number	2
DOIs	https://doi.org/10.1016/j.ijcard.2005.02.051
Publication status	Published - Apr 4 2006
Externally published	Yes

Keywords

Cardiac ryanodine receptor
Catecholaminergic polymorphic ventricular tachycardia
Sudden cardiac death

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

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10.1016/j.ijcard.2005.02.051

Cite this

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title = "A novel mutation (Arg169Gln) of the cardiac ryanodine receptor gene causing exercise-induced bidirectional ventricular tachycardia",

abstract = "An 18-year-old woman presented with exercise induced sudden collapse. Series of cardiac work up revealed no structural cardiac abnormalities. Bidirectional ventricular tachycardia occurred during a treadmill exercise test. Under the impression of catecholaminergic polymorphic ventricular tachycardia, we screened the cardiac ryanodine receptor gene for mutation. We identified a novel heterozygous mutation at the 169th amino acid (Arg169Gln). This amino acid is highly conserved among many species and this mutation was not present in 50 normal control subjects. This patient was treated with a β-block with good response.",

keywords = "Cardiac ryanodine receptor, Catecholaminergic polymorphic ventricular tachycardia, Sudden cardiac death",

author = "Hsueh, {Chia Hsiang} and Weng, {Yi Chun} and Chen, {Chao Yu} and Lin, {Tin Kwang} and Lin, {Yen Hung} and Lai, {Ling Ping} and Lin, {Jiunn Lee}",

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T1 - A novel mutation (Arg169Gln) of the cardiac ryanodine receptor gene causing exercise-induced bidirectional ventricular tachycardia

AU - Hsueh, Chia Hsiang

AU - Weng, Yi Chun

AU - Chen, Chao Yu

AU - Lin, Tin Kwang

AU - Lin, Yen Hung

AU - Lai, Ling Ping

AU - Lin, Jiunn Lee

PY - 2006/4/4

Y1 - 2006/4/4

N2 - An 18-year-old woman presented with exercise induced sudden collapse. Series of cardiac work up revealed no structural cardiac abnormalities. Bidirectional ventricular tachycardia occurred during a treadmill exercise test. Under the impression of catecholaminergic polymorphic ventricular tachycardia, we screened the cardiac ryanodine receptor gene for mutation. We identified a novel heterozygous mutation at the 169th amino acid (Arg169Gln). This amino acid is highly conserved among many species and this mutation was not present in 50 normal control subjects. This patient was treated with a β-block with good response.

AB - An 18-year-old woman presented with exercise induced sudden collapse. Series of cardiac work up revealed no structural cardiac abnormalities. Bidirectional ventricular tachycardia occurred during a treadmill exercise test. Under the impression of catecholaminergic polymorphic ventricular tachycardia, we screened the cardiac ryanodine receptor gene for mutation. We identified a novel heterozygous mutation at the 169th amino acid (Arg169Gln). This amino acid is highly conserved among many species and this mutation was not present in 50 normal control subjects. This patient was treated with a β-block with good response.

KW - Cardiac ryanodine receptor

KW - Catecholaminergic polymorphic ventricular tachycardia

KW - Sudden cardiac death

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A novel mutation (Arg169Gln) of the cardiac ryanodine receptor gene causing exercise-induced bidirectional ventricular tachycardia

Abstract

Keywords

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