臨床検査51巻7号

2007年07月発行

今月の主題 不整脈検査 総論

不整脈でみられる遺伝子異常

著者： 蒔田直昌¹ 筒井裕之¹

所属機関： ¹北海道大学大学院医学研究科循環病態内科学

ページ範囲：P.691 - P.696

　近年，不整脈患者の一部に心筋イオンチャネルの遺伝子異常が報告され，「心筋イオンチャネル病」という新しい疾患概念が生まれた．不整脈の遺伝子解析は，発端者の遺伝子異常のみならず，家系内の変異保有者の発症前診断も可能にし，遺伝子情報に基づいた不整脈予防に道を開いた．また，パッチクランプ法などの電気生理学的機能解析技術は，不整脈の病態生理をチャネルレベルで理解することに大きく貢献してきた．遺伝性不整脈のなかでは，先天性QT延長症候群とBrugada症候群の遺伝子解析が最も進んでいるが，最近，後天性不整脈を含めた様々な不整脈にも遺伝子異常が報告されている．

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