title: Cardiac connexins, mutations and arrhythmias.
abstract: OBJECTIVE
  Connexins are the pore forming subunits of gap junction channels. They are essential for cardiac action potential propagation. Connexins are modified at the transcriptional or posttranslational levels under pathological states such as cardiac hypertrophy or ischemia, thus contributing to the arrhythmogenic substrate. However, the relation between nucleotide substitutions in the connexin gene and the occurrence of cardiac arrhythmias remains largely unexplored.
  
  
  RESULTS
  Recent studies have reported an association between nucleotide substitutions in the connexin40 (Cx40) and connexin43 (Cx43) genes (GJA5 and GJA1, respectively) and cardiac arrhythmias. Of note, however, germline mutations in Cx43 are considered causative of oculodentodigital dysplasia, a pleiotropic syndrome wherein cardiac manifestations are notoriously absent.
  
  
  CONCLUSIONS
  Here, we review some of the current knowledge on the association between cardiac connexins and inherited arrhythmias.
authors.affiliation: The Leon H Charney Division of Cardiology, New York University School of Medicine, New York, New York 10016, USA. Mario.Delmar@nyumc.org
authors.forename: Mario
authors.initials: M
authors.lastname: Delmar
authors.forename: Naomasa
authors.initials: N
authors.lastname: Makita
mesh_terms: D000200:Action Potentials; D001145:Arrhythmias, Cardiac / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D001281:Atrial Fibrillation / Q000235:genetics; D009202:Cardiomyopathies / Q000235:genetics; D018031:Connexin 43 / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006327:Heart Block; D006801:Humans; D009154:Mutation; D009206:Myocardium; D000097003:Gap Junction alpha-5 Protein
chemical_list: D018031:Connexin 43; D017630:Connexins; D000097003:Gap Junction alpha-5 Protein