| H00730 | |
| H番号 | H00730 |
| 名称 | 家族性特発性心室細動 |
| 概要 | 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. |
| カテゴリ | 循環器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (IVF1) SCN5A [HSA:6331] [KO:K04838] (IVF2) DPP6 [HSA:1804] [KO:K23013] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Brugada syndrome [DS:H00728] |
| リンク | ICD-11: BC65.4 OMIM: 603829 612956 |
| 文献 | PMID:10940383 (SCN5A) 著者 Akai J, Makita N, Sakurada H, Shirai N, Ueda K, Kitabatake A, Nakazawa K, Kimura A, Hiraoka M タイトル A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. 雑誌 FEBS Lett 479:29-34 (2000) DOI:10.1016/S0014-5793(00)01875-5 PMID:21512816 (DPP6) 著者 Postema PG, Christiaans I, Hofman N, Alders M, Koopmann TT, Bezzina CR, Loh P, Zeppenfeld K, Volders PG, Wilde AA タイトル Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6. 雑誌 Neth Heart J 19:290-6 (2011) DOI:10.1007/s12471-011-0102-8 |