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 [BR:br08402]
 Cardiovascular diseases
  Cardiac diseases
   H01263  Progressive cardiac conduction defect (PCCD)
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)
Gene
(type IA) SCN5A [HSA:6331] [KO:K04838]
(type IB) TRPM4 [HSA:54795] [KO:K04979]
Comment
Brugada syndrome is described in H00728. [DS:H00728]
Other DBs
ICD-11: BC63.Y
ICD-10: Q20.9
OMIM: 113900 604559
Reference
  Authors
Probst V, Allouis M, Sacher F, Pattier S, Babuty D, Mabo P, Mansourati J, Victor J, Nguyen JM, Schott JJ, Boisseau P, Escande D, Le Marec H
  Title
Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation.
  Journal
J Cardiovasc Electrophysiol 17:270-5 (2006)
DOI:10.1111/j.1540-8167.2006.00349.x
Reference
  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
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