A cardiac sodium channel mutation identified in Brugada syndrome associated with atrial standstill.

@article{Takehara2004ACS,
  title={A cardiac sodium channel mutation identified in Brugada syndrome associated with atrial standstill.},
  author={Naofumi Takehara and Naomasa Makita and Junichi Kawabe and Nobuyuki Sato and Yuichiro Kawamura and Akira Kitabatake and Kenjiro Kikuchi},
  journal={Journal of internal medicine},
  year={2004},
  volume={255 1},
  pages={137-42}
}
Mutations in the cardiac Na+ channel gene SCN5A are responsible for multiple lethal ventricular arrhythmias including Brugada syndrome and congenital long QT syndrome. Here we report a case of Brugada syndrome with ST elevation in the right precordial and inferior leads accompanied by atrial standstill and spontaneous ventricular fibrillation. Atrial standstill and J wave elevation were provoked by procainamide. Genetic analysis revealed a missense mutation (R367H) in SCN5A. The resultant… CONTINUE READING

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SCN5A Variants: Association With Cardiac Disorders

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