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

研究成果: 雜誌貢獻文章同行評審

18 引文 斯高帕斯(Scopus)

摘要

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.
原文英語
頁(從 - 到)276-278
頁數3
期刊International Journal of Cardiology
108
發行號2
DOIs
出版狀態已發佈 - 四月 4 2006
對外發佈

ASJC Scopus subject areas

  • 心臟病學與心血管醫學

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