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Sick sinus syndrome 2, autosomal dominant; SSS2

Disease ID:861
Name:Sick sinus syndrome 2, autosomal dominant; SSS2
Associated with:1 target
Atrial fibrillation with bradyarrhythmia | Familial sick sinus syndrome | Sick sinus syndrome | Sinus bradycardia syndrome, familial, autosomal dominant | Sinus node disease, familial, autosomal dominant
Database Links
Disease Ontology: DOID:13884
OMIM: 163800
Orphanet: ORPHA166282


Drugs:  Ivabradine
Side effects:  Not established
Therapeutic use:  Stable angina pectoris
Comments:  Individuals experience a range of symptoms including sick sinus syndrome with AV block, sinus node dysfunction with recurrent syncope, QT prolongation, polymorphic ventricular tachycardia and torsade de pointes and sinus bradycardia (40 bpm) with intermittent atrial fibrillation.
References:  1,4,6-7
Mutations:  HCN4 is associated with 6 mutation. Click here for details


No ligand related data available for Sick sinus syndrome 2, autosomal dominant; SSS2


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1. Baruscotti M, Bucchi A, Difrancesco D. (2005) Physiology and pharmacology of the cardiac pacemaker ("funny") current. Pharmacol. Ther., 107 (1): 59-79. [PMID:15963351]

2. Duhme N, Schweizer PA, Thomas D, Becker R, Schröter J, Barends TR, Schlichting I, Draguhn A, Bruehl C, Katus HA et al.. (2013) Altered HCN4 channel C-linker interaction is associated with familial tachycardia-bradycardia syndrome and atrial fibrillation. Eur. Heart J., 34 (35): 2768-75. [PMID:23178648]

3. Laish-Farkash A, Glikson M, Brass D, Marek-Yagel D, Pras E, Dascal N, Antzelevitch C, Nof E, Reznik H, Eldar M et al.. (2010) A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews. J. Cardiovasc. Electrophysiol., 21 (12): 1365-72. [PMID:20662977]

4. Milanesi R, Baruscotti M, Gnecchi-Ruscone T, DiFrancesco D. (2006) Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel. N. Engl. J. Med., 354 (2): 151-7. [PMID:16407510]

5. Nof E, Luria D, Brass D, Marek D, Lahat H, Reznik-Wolf H, Pras E, Dascal N, Eldar M, Glikson M. (2007) Point mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is associated with familial asymptomatic sinus bradycardia. Circulation, 116 (5): 463-70. [PMID:17646576]

6. Schulze-Bahr E, Neu A, Friederich P, Kaupp UB, Breithardt G, Pongs O, Isbrandt D. (2003) Pacemaker channel dysfunction in a patient with sinus node disease. J. Clin. Invest., 111 (10): 1537-45. [PMID:12750403]

7. Ueda K, Nakamura K, Hayashi T, Inagaki N, Takahashi M, Arimura T, Morita H, Higashiuesato Y, Hirano Y, Yasunami M, Takishita S, Yamashina A, Ohe T, Sunamori M, Hiraoka M, Kimura A. (2004) Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia. J. Biol. Chem., 279 (26): 27194-8. [PMID:15123648]

8. Xu X, Marni F, Wu S, Su Z, Musayev F, Shrestha S, Xie C, Gao W, Liu Q, Zhou L. (2012) Local and global interpretations of a disease-causing mutation near the ligand entry path in hyperpolarization-activated cAMP-gated channel. Structure, 20 (12): 2116-23. [PMID:23103389]