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GENATLAS PHENOTYPE
last update : 21-03-2017
Symbol FSBD
Location 15q24.1
Name familial sinusal bradycardia
Other name(s)
  • Sick sinus syndrome 2
  • atrial fibrillation with bradyarrhythmia
    • Corresponding gene HCN4
    Other symbol(s) SSS2
    Main clinical features
  • asymptomatic sinusal bradycardia
  • nodal rhythm with bradycardia and patients tended to develop paroxysms of atrial fibrillation in the fourth decade of life
  • electrophysiologic testing confirmed significant sinus node dysfunction, with prolonged average and corrected sinus node recovery times
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     mutation S672R, modifying channel kinetics by shifting the current activation range to hyperpolarized voltage and slowing current deactivation
    Remark(s) . missense mutation in the HCN4 ion channel pore carries a favorable prognosis without the need for pacemaker implantation during long-term follow-up (Nof 2007)