Progressive cardiac conduction defect

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Progressive cardiac conduction defect
Other namesFamilial Lenègre disease, Familial Lev disease, Familial Lev-Lenègre disease, Familial PCCD, Familial progressive heart block, Progressive familial heart block, Hereditary bundle branch defect [1]
Specialty Cardiology

Progressive cardiac conduction defect (PCCD) is a rare inherited degenerative disease of a heart's electrical conduction system. Over time PCCD can lead to a complete heart block and might require a pacemaker implantation to treat it. [2]

Contents

Genetics

Most commonly PCCD is inherited as a autosomal dominant defect and is caused by mutations of chromosome 19q13.3 and in SCN5A, SCN1B and TRPM4 genes. [2] [3]

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References

  1. "Familial progressive cardiac conduction defect | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2022-01-18.
  2. 1 2 "Familial progressive cardiac conduction defect | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2022-01-18.
  3. "Progressive Cardiac Conduction Defect - an overview | ScienceDirect Topics". www.sciencedirect.com. Retrieved 2022-01-18.