An RyR2 mutation found in a family with a short-coupled variant of torsade de pointes

Int J Cardiol. 2017 Jan 15:227:367-369. doi: 10.1016/j.ijcard.2016.11.052. Epub 2016 Nov 8.

Authors

Mai Kimura¹, Taishi Fujisawa¹, Yoshiyasu Aizawa², Noritaka Matsuhashi³, Shogo Ito¹, Kazuaki Nakajima¹, Shin Kashimura¹, Akira Kunitomi¹, Yoshinori Katsumata¹, Takahiko Nishiyama¹, Takehiro Kimura¹, Nobuhiro Nishiyama¹, Shinsuke Yuasa¹, Seiji Takatsuki¹, Kenjiro Kosaki⁴, Keiichi Fukuda¹

Affiliations

¹ Department of Cardiology, Keio University School of Medicine, Tokyo, Japan.
² Department of Cardiology, Keio University School of Medicine, Tokyo, Japan. Electronic address: yoshiyaaizawa-circ@umin.ac.jp.
³ Department of Cardiology and Nephrology, Dokkyo Medical University, Tochigi, Japan.
⁴ Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

PMID: 27839804
DOI: 10.1016/j.ijcard.2016.11.052

No abstract available

Keywords: Implantable cardioverter defibrillator; Sudden death; Torsade de pointes; Verapamil.

Publication types

Case Reports

MeSH terms

Adult
Female
Humans
Mutation / genetics*
Pedigree
Ryanodine Receptor Calcium Release Channel / genetics*
Torsades de Pointes / diagnosis*
Torsades de Pointes / genetics*
Torsades de Pointes / therapy

Substances

Ryanodine Receptor Calcium Release Channel