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

Study Overview
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Brief Summary
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Identification of genes involved in congenital atrioventricular block and progressive Cardiac Conduction Disease.

Detailed Description
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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.

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

Conditions
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Congenital Complete Heart Block, Cardiac Conduction Defect Progressive

Intervention / Treatment
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* Genetic: genetic blood analysis


Participation Criteria
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Eligibility Criteria
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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 exclusion criteria Patients with cardiac conduction disorder associated with a structural cardiopathy or due to an identified cause Patients who are unable to sign or who refuse to sign an informed consent
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients with congenital atrioventricular block<br>Patient with congenital atrioventricular block | Genetic: genetic blood analysis<br>* patients will undergo a blood sample (15 ml) to analyse their genetic profile<br>|
| relatives with congenital atrioventricular block<br>Normal relatives of patients with congenital atrioventricular block | Genetic: genetic blood analysis<br>* patients will undergo a blood sample (15 ml) to analyse their genetic profile<br>|
| Patients with progressive Cardiac Conduction Disease<br>Patients with progressive Cardiac Conduction Disease, | Genetic: genetic blood analysis<br>* patients will undergo a blood sample (15 ml) to analyse their genetic profile<br>|
| relatives with progressive Cardiac Conduction disesae<br>Normal relatives of patients with progressive Cardiac Conduction Disease | Genetic: genetic blood analysis<br>* patients will undergo a blood sample (15 ml) to analyse their genetic profile<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Identification of genetic variations responsible of Atrioventricular Conduction Defects |  | inclusion | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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genetic, congenital atrioventricular block, progressive Cardiac Conduction Disease