Arrhythmogenic Right Ventricular Cardiomyopathy, Arrhythmogenic Right Ventricular Dysplasia
Conditions
Brief summary
The main objective of this study is to assess if it is possible, at the end of endocardial voltage mapping, to accurately collect intact cardiomyocytes and to isolate high quality DNA allowing molecular testing of selected genes involved in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Detailed description
Arrhythmogenic right ventricular cardiomyopathy/dysplasia is associated with mutations in genes encoding proteins from desmosomes and is characterized by a large expression variability. The classical molecular diagnosis from blood cells fails to identify mutations in around 30% of patients. Probes used for endocardial voltage mapping allow to collect some cardiomyocytes which could be used for DNA analysis. The aim of this project is to investigate if cardiomyocytes can efficiently be collected during endocardial voltage mapping in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Thirty patients suffering from arrhythmogenic right ventricular cardiomyopathy/dysplasia cardiac and needing endocardial voltage mapping for disease diagnosis and/or prognosis assessment will be included. The main outcome will be the percentage of patients in whom mapping will allow to collect intact cardiomyocytes from which high quality DNA extraction will be achieved. Other outcomes include the identification of new mutational mechanisms as somatic mosaicism in selected genes (PKP2, DSCG2 DSP) and the feasibility of epigenetic analysis of these genes.
Interventions
DIAGNOSTIC_TESTCardiomyocytes collection
collect intact cardiomyocytes from which high quality DNA extraction will be achieved
Sponsors
University Hospital, Toulouse
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Intervention model description
Exploratory, monocentric and prospective study
Eligibility
Sex/Gender
ALL
Age
18 Years to 65 Years
Healthy volunteers
No
Inclusion criteria
* patients needing endocardial voltage mapping in the context of arrhythmogenic right ventricular cardiomyopathy/dysplasia diagnosed using current criteria
Exclusion criteria
* Patient under 18 years, pregnant women and patients under legal protection
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| percentage of patients | inclusion | Percentage of patients undergoing endocardial voltage mapping for arrhythmogenic right ventricular cardiomyopathy/dysplasia in whom at least one intact cardiomyocyte allowing extraction of high quality DNA will be collected. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Mutation percentage | Inclusion | Percentage of cases in which a mutation of at least one of three selected genes involved in arrhythmogenic right ventricular cardiomyopathy/dysplasia will be identified |
| DNA results | Inclusion | Concordance of results of DNA analysis between blood cells and cardiomyocytes |
| Epigenetic analysis | Inclusion | Number of cases where epigenetic analysis of the three selected genes PKP2, DSP, DSG2 from cardiomyocyte DNA could be performed and comparison with DNA methylation observed from blood cells DNA. |
| Cardiomyocytes number Description: | Inclusion | Number of intact cardiomyocytes collected in each patient |
| Percentage of cardiomyocytes | Inclusion | Percentage of cardiomyocytes from which isolation of high quality DNA will be achieved |
Countries
France
Contacts
PRINCIPAL_INVESTIGATORPhilippe MAURY, MD
University Hospital, Toulouse
Outcome results
None listed