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 journalArticle

14 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 languageEnglish
Pages (from-to)276-278
Number of pages3
JournalInternational Journal of Cardiology
Volume108
Issue number2
DOIs
Publication statusPublished - Apr 4 2006
Externally publishedYes

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Keywords

  • Cardiac ryanodine receptor
  • Catecholaminergic polymorphic ventricular tachycardia
  • Sudden cardiac death

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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