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