H00730 | |
H number | H00730 |
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 |
Network | - |
Gene | (IVF1) SCN5A [HSA:6331] [KO:K04838] (IVF2) DPP6 [HSA:1804] [KO:K23013] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | Brugada syndrome [DS:H00728] |
Other DBs | ICD-11: BC65.4 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 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 |