Identification of Genetic Basis of Atrioventricular Conduction Defects: From Congenital Forms to Degenerative Forms

Identification of genes involved in congenital atrioventricular block and progressive Cardiac Conduction Disease.

Atrioventricular blocks are a heterogenous group of diseases involving children with congenital atrioventricular block (CAB) and more frequently elderly patients affected by progressive Cardiac Conduction Disease (PCCD).

The aim of the study is to uncover the genetic model, likely more complex than previously appreciated, and characterize the gene expression remodelling leading to high degree of conduction defect.

The recent technological developments in genomics coupled to the availability of large and highly characterized biobanks of patients have now set the stage:

To identify rare genetic variants/new genes contributing to CAB and PCCD by exome sequencing on familial form suspected to impact strongly the phenotype
To identify common genetic variants modulating the risk of developing (severe) PCCD by GWAS
To estimate the prevalence and relevance of genes uncovered by TASK#1, #2 in large patient sets (PCCD and CAB) by NGS.

Eligibility

Relevant conditions:

Congenital Complete Heart Block

Cardiac Conduction Defect Progressive

If you aren't sure if you meet the criteria above speak to your healthcare professional. Criteria may be updated but not reflected here, do not hesitate to contact the trial if you think are close to fitting criteria.

locations

Contact Information

Overall Contact

vincent PROBST, MD-PHD

vincent.probst@chu-nantes.fr

Data sourced from ClinicalTrials.gov