title: Inherited progressive cardiac conduction disorders.
abstract: OBJECTIVE
  Progressive cardiac conduction disorder (PCCD) is an inherited cardiac disease that may present as a primary electrical disease or be associated with structural heart disease. In this brief review, we present recent clinical, genetic, and molecular findings relating to PCCD.
  
  
  RESULTS
  Inherited PCCD in structurally normal hearts has been found to be linked to genetic variants in the ion channel genes SCN5A, SCN1B, SCN10A, TRPM4, and KCNK17, as well as in genes coding for cardiac connexin proteins. In addition, several SCN5A mutations lead to 'cardiac sodium channelopathy overlap syndrome'. Other genes coding for cardiac transcription factors, such as NKX2.5 and TBX5, are involved in the development of the cardiac conduction system and in the morphogenesis of the heart. Mutations in these two genes have been shown to cause cardiac conduction disorders associated with various congenital heart defects.
  
  
  CONCLUSIONS
  PCCD is a hereditary syndrome, and genetic variants in multiple genes have been described to date. Genetic screening and identification of the causal mutation are crucial for risk stratification and family counselling.
authors.affiliation: aL'Institut du Thorax, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, Centre National de la Recherche Scientifique (CNRS) UMR 6291, French Reference Center for Inherited Arrhythmias, Nantes University, Nantes bMarie Lannelongue Hospital, Department of Pediatric and Congenital Cardiac Surgery, M3C - French Reference Center for Complex Congenital Heart Diseases, Le Plessis Robinson/Paris Sud University, Le Kremlin Bicêtre, Paris, France cDepartment of Clinical Research, Swiss National Centre of Competence in Research (NCCR) TransCure, University of Bern, Bern, Switzerland.
authors.forename: Alban-Elouen
authors.initials: AE
authors.lastname: Baruteau
authors.forename: Vincent
authors.initials: V
authors.lastname: Probst
authors.forename: Hugues
authors.initials: H
authors.lastname: Abriel
mesh_terms: D001145:Arrhythmias, Cardiac / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D053840:Brugada Syndrome; D000075224:Cardiac Conduction System Disease; D002316:Cardiotonic Agents / Q000627:therapeutic use; D003952:Diagnostic Imaging / Q000379:methods*; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005820:Genetic Testing; D006329:Heart Conduction System / Q000002:abnormalities*; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D011379:Prognosis; D018570:Risk Assessment; D012720:Severity of Illness Index; D015996:Survival Rate; D020825:T-Box Domain Proteins / Q000235:genetics*; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D002316:Cardiotonic Agents; D009687:Nuclear Proteins; D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors