| 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
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| 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) |