KEGG   DISEASE: Familial idiopathic ventricular fibrillation
Entry
H00730                      Disease                                
Name
Familial idiopathic ventricular fibrillation
Description
Idiopathic ventricular fibrillation (IVF) is a syndrome that causes sudden cardiac death in individuals with an apparently normal heart. It has been found that a novel SCN5A missense mutation causes the disease. Recently, IVF linked to the DPP6 gene has been reported.
Category
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Cardiac arrhythmia
   BC65  Cardiac arrhythmia associated with genetic disorder
    H00730  Familial idiopathic ventricular fibrillation
Pathway
hsa04261  Adrenergic signaling in cardiomyocytes
Gene
(IVF1) SCN5A [HSA:6331] [KO:K04838]
(IVF2) DPP6 [HSA:1804] [KO:K23013]
Comment
Brugada syndrome [DS:H00728]
Other DBs
ICD-11: BC65.4
MeSH: C567851 C567841
OMIM: 603829 612956
Reference
PMID:10940383 (SCN5A)
  Authors
Akai J, Makita N, Sakurada H, Shirai N, Ueda K, Kitabatake A, Nakazawa K, Kimura A, Hiraoka M
  Title
A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome.
  Journal
FEBS Lett 479:29-34 (2000)
DOI:10.1016/S0014-5793(00)01875-5
Reference
PMID:21512816 (DPP6)
  Authors
Postema PG, Christiaans I, Hofman N, Alders M, Koopmann TT, Bezzina CR, Loh P, Zeppenfeld K, Volders PG, Wilde AA
  Title
Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6.
  Journal
Neth Heart J 19:290-6 (2011)
DOI:10.1007/s12471-011-0102-8
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