Cardiac Conduction Defect Progressive, Congenital Complete Heart Block
Conditions
Keywords
genetic, congenital atrioventricular block, progressive Cardiac Conduction Disease
Brief summary
Identification of genes involved in congenital atrioventricular block and progressive Cardiac Conduction Disease.
Detailed description
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: 1. To identify rare genetic variants/new genes contributing to CAB and PCCD by exome sequencing on familial form suspected to impact strongly the phenotype 2. To identify common genetic variants modulating the risk of developing (severe) PCCD by GWAS 3. To estimate the prevalence and relevance of genes uncovered by TASK#1, #2 in large patient sets (PCCD and CAB) by NGS.
Interventions
GENETICgenetic blood analysis
patients will undergo a blood sample (15 ml) to analyse their genetic profile
Sponsors
Nantes University Hospital
Study design
Observational model
FAMILY_BASED
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
Congenital atrioventricular block inclusion criteria: * Patients with idiopathic congenital atrioventricular block diagnosed before the age of 15 years. * Non-immune congenital atrioventricular block documented by a maternal serology (negative for anti-nuclear antibodies or anti Ro-SSA antibodies and anti La-SSB antibodies) * Written consent to participate to the study and written consent of both parents. * Parents of children with idiopathic congenital atrioventricular block. Congenital atrioventricular block
Exclusion criteria
* Positive maternal serology * Patients or parents who are unable to sign or who refuse to sign an informed consent Progressive Cardiac Conduction Disease inclusion criteria * Patients with isolated cardiac conduction disorder with a normal morphology of the heart confirmed by echocardiography. * Relatives of patients with isolated cardiac conduction disorder * Written consent to participate to the study Progressive Cardiac Conduction Disease
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Identification of genetic variations responsible of Atrioventricular Conduction Defects | inclusion |
Countries
France
Contacts
Primary Contactvincent PROBST, MD-PHD
Outcome results
None listed