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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with Cardiomyocytes collection | Experimental | Patients suffering from arrhythmogenic right ventricular cardiomyopathy/dysplasia cardiac and needing endocardial voltage mapping for disease diagnosis and/or prognosis assessment |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Cardiomyocytes collection | Diagnostic Test | collect intact cardiomyocytes from which high quality DNA extraction will be achieved |
|
| Measure | Description | Time Frame |
|---|---|---|
| percentage of patients | 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. | inclusion |
| Measure | Description | Time Frame |
|---|---|---|
| Mutation percentage | 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 | Inclusion |
| DNA results |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Philippe MAURY, MD | University Hospital, Toulouse | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Cardiology-rytmology service | Paris | France | ||||
| University Hospital Toulouse - Cardiology Department |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 39048282 | Result | Maury P, Ader F, Lhuillier E, Martins F, Beneyto M, Gales C, Villard E, Duboscq-Bidot L, Gandjbakhch E, Guilbeau-Frugier C. Human DNA Extraction and Sequencing From Cardiomyocytes Collected by Catheter-Based Aspiration. J Am Coll Cardiol. 2024 Jul 30;84(5):490-492. doi: 10.1016/j.jacc.2024.05.037. No abstract available. |
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Exploratory, monocentric and prospective study
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Concordance of results of DNA analysis between blood cells and cardiomyocytes
| Inclusion |
| Epigenetic analysis | 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. | Inclusion |
| Cardiomyocytes number Description: | Number of intact cardiomyocytes collected in each patient | Inclusion |
| Percentage of cardiomyocytes | Percentage of cardiomyocytes from which isolation of high quality DNA will be achieved | Inclusion |
| Toulouse |
| 31000 |
| France |
| ID | Term |
|---|---|
| D019571 | Arrhythmogenic Right Ventricular Dysplasia |
| ID | Term |
|---|---|
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D009202 | Cardiomyopathies |
| D006331 | Heart Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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