De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.

@article{Hong2005DeNK,
  title={De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.},
  author={Kui Hong and David R Piper and Aurora Diaz-Valdecantos and Josep Brugada and Antonio J. Oliva and Elena Burashnikov and Jos{\'e} Santos-de-Soto and Josefina Grueso-Montero and Ernesto Diaz-Enfante and Pedro Brugada and Frank B. Sachse and Michael C Sanguinetti and Ramon Brugada},
  journal={Cardiovascular research},
  year={2005},
  volume={68 3},
  pages={433-40}
}
OBJECTIVE We describe a genetic basis for atrial fibrillation and short QT syndrome in utero. Heterologous expression of the mutant channel was used to define the physiological consequences of the mutation. METHODS A baby girl was born at 38 weeks after induction of delivery that was prompted by bradycardia and irregular rythm. ECG revealed atrial fibrillation with slow ventricular response and short QT interval. Genetic analysis identified a de novo missense mutation in the potassium channel… CONTINUE READING

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