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Genetic and Rare Diseases Information Center (GARD)

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Familial progressive cardiac conduction defect


Other Names for this Disease

  • Familial Lenègre disease
  • Familial Lev disease
  • Familial Lev-Lenègre disease
  • Familial PCCD
  • Familial progressive heart block
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Overview

Familial progressive cardiac conduction defect (PCCD) is a is a cardiac (heart) conduction disorder that may progress to complete heart block. Affected people may not have any symptoms, or the condition may cause shortness of breath, dizziness, fainting, abdominal pain, heart failure, or sudden death. Mutations in several genes, including the SCN5A, SCN1B and TRPM4 genes, can cause PCCD. Several other genes may be the cause when PCCD occurs with congenital heart disease. Familial PCCD is usually inherited in an autosomal dominant manner. However, not all people that have the mutated gene will have the condition; in those that do, symptoms and severity can vary (known as reduced penetrance and variable expressivity). Autosomal recessive inheritance and sporadic cases have been reported, but are rare. Treatment includes implantation of a pacemaker.[1]
Last updated: 3/20/2014

References

  1. Vincent Probst. Familial progressive cardiac conduction defect. Orphanet. December, 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=871. Accessed 3/18/2014.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial progressive cardiac conduction defect. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Familial Lenègre disease
  • Familial Lev disease
  • Familial Lev-Lenègre disease
  • Familial PCCD
  • Familial progressive heart block
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.