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GENATLAS PHENOTYPE
last update : 27-02-2009
Symbol ATFB9
Location 17q24.3
Name atrial fibrillation, familial, 9
Corresponding gene KCNJ2
Main clinical features
  • the most common sustained cardiac rhythm disturbance, with the most dreaded complication, the thromboembolic stroke
  • cardiac disorder characterized by supraventricular tachyarrhythmia due to uncoordinated atrial activation, a rapid atrial rate of 150–300 beats/min, absence of P waves, presence of rapid oscillations or fibrillatory waves (f waves), and inconsistent R-R intervals on electrocardiograms (ECG)
    • Genetic determination autosomal dominant
    Function/system disorder
    Type susceptibility factor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function V93I mutation may play a role in initiating and/or maintaining AF by increasing the activity of the inward rectifier K(+) channel
    Remark(s)