KEGG   DISEASE: Sick sinus syndrome
Entry
H00729                      Disease                                
Name
Sick sinus syndrome;
Sinus node dysfunction
Description
Sick sinus syndrome (SSS) comprises a variety of conditions involving sinus node dysfunction and commonly affects elderly persons. Patients may experience syncope, pre-syncope, palpitations, or dizziness. SSS has multiple manifestations on electrocardiogram, including sinus bradycardia, sinus arrest, sinoatrial block, and alternating patterns of bradycardia and tachycardia. Autosomal recessive type (SSS1) can be caused by compound heterozygous mutation in the SCN5A gene, and autosomal dominant type (SSS2) can be caused by heterozygous mutation in the HCN4. SCN5A encodes an alpha-subunit of the cardiac sodium channel carrying the current to form a rapid upstroke of action potential, whereas HCN4 codes for an alpha-subunit of hyperpolarization-activated cation channel.
Category
Cardiovascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Cardiac diseases
   H00729  Sick sinus syndrome
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Cardiac arrhythmia
   Supraventricular rhythm disturbance
    BC80  Supraventricular bradyarrhythmia
     H00729  Sick sinus syndrome
Related
pathway
hsa04261 Adrenergic signaling in cardiomyocytes   
Gene
(SSS1) SCN5A [HSA:6331] [KO:K04838]
(SSS2) HCN4 [HSA:10021] [KO:K04957]
(SSS3) MYH6 [HSA:4624] [KO:K17751]
(SSS4) GNB2 [HSA:2783] [KO:K04537]
Other DBs
ICD-11: BC80.20
OMIM: 608567 163800 614090 619464
Reference
  Authors
Adan V, Crown LA
  Title
Diagnosis and treatment of sick sinus syndrome.
  Journal
Am Fam Physician 67:1725-32 (2003)
Reference
PMID:14523039 (SCN5A)
  Authors
Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, Rhodes TH, George AL Jr
  Title
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).
  Journal
J Clin Invest 112:1019-28 (2003)
DOI:10.1172/JCI18062
Reference
PMID:15123648 (HCN4)
  Authors
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
  Title
Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia.
  Journal
J Biol Chem 279:27194-8 (2004)
DOI:10.1074/jbc.M311953200
Reference
PMID:21378987 (MYH6)
  Authors
Holm H, Gudbjartsson DF, Sulem P, Masson G, Helgadottir HT, Zanon C, Magnusson OT, Helgason A, Saemundsdottir J, Gylfason A, Stefansdottir H, Gretarsdottir S, Matthiasson SE, Thorgeirsson GM, Jonasdottir A, Sigurdsson A, Stefansson H, Werge T, Rafnar T, Kiemeney LA, Parvez B, Muhammad R, Roden DM, Darbar D, Thorleifsson G, Walters GB, Kong A, Thorsteinsdottir U, Arnar DO, Stefansson K
  Title
A rare variant in MYH6 is associated with high risk of sick sinus syndrome.
  Journal
Nat Genet 43:316-20 (2011)
DOI:10.1038/ng.781
Reference
PMID:28219978 (GNB2)
  Authors
Stallmeyer B, Kuss J, Kotthoff S, Zumhagen S, Vowinkel K, Rinne S, Matschke LA, Friedrich C, Schulze-Bahr E, Rust S, Seebohm G, Decher N, Schulze-Bahr E
  Title
A Mutation in the G-Protein Gene GNB2 Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction.
  Journal
Circ Res 120:e33-e44 (2017)
DOI:10.1161/CIRCRESAHA.116.310112
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