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References OMIM Gene GeneReviews HGMD HGNC
last update : 02-10-2009
Symbol PCCD1
Location 3p22.2
Name progressive cardiac conduction defect 1
Other name(s)
  • progressive familial heart block, type I
  • Lenegre-Lev disease
  • Corresponding gene SCN5A
    Other symbol(s) PFHB1
    Main clinical features
  • progressive alteration of cardiac conduction through the His-Purkinje system with right or left bundle branch block and large QRS complexes, leading to complete atrioventricular block and causing syncope and sudden death
  • Genetic determination autosomal dominant
    Related entries including the sudden unexplained nocturnal death syndrome (SUNDS)
    Function/system disorder cardiovascular
    Type disease
    Gene product
    Name sodium voltage-gated channel, type V (SCN5A)