| H01263 | |
| H番号 | H01263 |
| 名称 | 進行性心臓伝導障害; 進行性家族性心臓ブロック |
| 概要 | Progressive cardiac conduction defect (PCCD) is a cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system. It leads to complete atrioventricular block causing syncope and sudden death. Mutations in the SCN5A gene encoding the cardiac sodium channel are responsible for Brugada syndrome (BS) and also for PCCD. Furthermore, another PCCD is caused by mutations in TRPM4. |
| カテゴリ | 循環器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (PFHB1A) SCN5A [HSA:6331] [KO:K04838] (PFHB1B) TRPM4 [HSA:54795] [KO:K04979] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Brugada syndrome is described in H00728. [DS:H00728] |
| リンク | ICD-11: BC63.Y ICD-10: Q20.9 OMIM: 113900 604559 |
| 文献 | PMID:10471492 (PFHB1A) 著者 Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, Wilde AA, Escande D, Mannens MM, Le Marec H タイトル Cardiac conduction defects associate with mutations in SCN5A. 雑誌 Nat Genet 23:20-1 (1999) DOI:10.1038/12618 PMID:19726882 (PFHB1B) 著者 Kruse M, Schulze-Bahr E, Corfield V, Beckmann A, Stallmeyer B, Kurtbay G, Ohmert I, Schulze-Bahr E, Brink P, Pongs O タイトル Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I. 雑誌 J Clin Invest 119:2737-44 (2009) DOI:10.1172/JCI38292 |