| H01263 | |
| H number | H01263 |
| Name | Progressive cardiac conduction defect (PCCD); Progressive familial heart block (PFHB); Lenegre-Lev disease |
| Description | 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. |
| Category | Cardiovascular disease |
| Network | - |
| Gene | (PFHB1A) SCN5A [HSA:6331] [KO:K04838] (PFHB1B) TRPM4 [HSA:54795] [KO:K04979] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Brugada syndrome is described in H00728. [DS:H00728] |
| Other DBs | ICD-11: BC63.Y ICD-10: Q20.9 OMIM: 113900 604559 |
| Reference | PMID:10471492 (PFHB1A) AUTHORS Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, Wilde AA, Escande D, Mannens MM, Le Marec H TITLE Cardiac conduction defects associate with mutations in SCN5A. JOURNAL Nat Genet 23:20-1 (1999) DOI:10.1038/12618 PMID:19726882 (PFHB1B) AUTHORS Kruse M, Schulze-Bahr E, Corfield V, Beckmann A, Stallmeyer B, Kurtbay G, Ohmert I, Schulze-Bahr E, Brink P, Pongs O TITLE Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I. JOURNAL J Clin Invest 119:2737-44 (2009) DOI:10.1172/JCI38292 |