KEGG DISEASE: Progressive cardiac conduction defect (PCCD)

KEGG

DISEASE: Progressive cardiac conduction defect (PCCD)

Entry

H01263                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
11 Diseases of the circulatory system
  Cardiac arrhythmia
   BC63  Conduction disorders
    H01263  Progressive cardiac conduction defect (PCCD)

Pathway

Adrenergic signaling in cardiomyocytes

Gene

(PFHB1A) SCN5A [HSA:6331] [KO:K04838]
(PFHB1B) TRPM4 [HSA:54795] [KO:K04979]

Comment

Brugada syndrome is described in H00728. [DS:H00728]

Other DBs

ICD-11:

OMIM:

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

Reference

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

LinkDB

» Japanese version

DBGET integrated database retrieval system