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Identification of a strong genetic background for progressive cardiac conduction defect by epidemiological approach
  1. Jean Baptiste Gourraud1,2,3,
  2. Florence Kyndt1,2,3,
  3. Swanny Fouchard3,
  4. Eric Rendu2,3,
  5. Philippe Jaafar2,3,
  6. Claude Gully4,
  7. Karim Gacem5,
  8. Jean Marc Dupuis6,
  9. Aurelie Longueville2,3,
  10. Estelle Baron1,2,
  11. Matilde Karakachoff1,2,7,
  12. Jean Pierre Cebron8,
  13. Stephanie Chatel1,2,3,
  14. Jean Jacques Schott1,2,3,
  15. Hervé Le Marec1,2,3,
  16. Vincent Probst1,2,3
  1. 1INSERM, UMR1087, CNRS UMR 6291, l'institut du thorax, Nantes, France
  2. 2Université de Nantes, l'institut du thorax, Nantes, France
  3. 3CHU Nantes, l'institut du thorax, Service de cardiologie, Nantes, France
  4. 4CHD de La Roche sur Yon, La Roche sur Yon, France
  5. 5CH de Cholet, Cholet, France
  6. 6CHU d'Angers, Angers, France
  7. 7CNR - Istituto di Fisiologia Clinica, Pisa, Italia
  8. 8Nouvelles cliniques nantaises, Nantes, France
  1. Correspondence to Dr Vincent Probst, Service de cardiologie du CHU de Nantes, Hôpital Nord, Bd Jacques Monod, Nantes Cedex 44093, France; vincent.probst{at}


Introduction Progressive cardiac conduction defect (PCCD) is a frequent disease attributed to degeneration and fibrosis of the His bundle. Over the past years, gene defects have been identified demonstrating that PCCD could be a genetic disease. The aim of this study was to show a familial aggregation for PCCD using a genetic epidemiological approach to improve in fine genetic knowledge of the transmission of the disease.

Methods and results Using the French social security number, the authors have been able to determine the city of birth of the 6667 patients implanted with a pacemaker (PM) for PCCD between 1995 and 2005 in the western part of France. The authors then mapped the frequency of PM implantations for PCCD. A large heterogeneity of the frequency of the disease has been observed, with a frequency of 0.21% in the major city (Nantes) ranging up to 2.28% in specific parishes. Familial studies performed in the parishes with the highest frequency of the disease allowed the authors to identify five large families with PCCD. Clinical investigations demonstrated phenotype heterogeneity between families. Three patterns have been differentiated.

Conclusions This study demonstrates a disparate geographical repartition of the frequency of PM implantation in the area of the authors at least in part related to a hereditary factor. The identification of five large families affected by PCCD using epidemiological approach underlines the existence of a major genetic background in PCCD.

  • Bundle-branch block
  • heart block
  • conduction
  • epidemiology
  • arrhythmias
  • brugada
  • channelopathy
  • sudden adult death syndrome
  • syncope
  • bradycardia
  • genetics
  • ventricular fibrillation
  • atrial fibrillation
  • atrioventricular block

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  • See Editorial, p 1263

  • Funding P.H.R.C. 2004 R20/07 and 2011 from the CHU de Nantes, France. DGOS-PHRC.

  • Competing interests None.

  • Ethics approval The ethics approval was provided by Groupe Nantais d'Ethique Dans Le Domaine de la Sante (Gneds).

  • Provenance and peer review Not commissioned; internally peer reviewed.

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