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Sudden cardiac death (SCD) is one of the leading causes of death in developed countries. These deaths (more than 5,000 per year in France) are due to hereditary arrhythmias or cardiomyopathies. Early diagnosis of SCD is often achieved through family screening, but the main challenge is to stratify the risk of SCD in these patients. Indeed, prevention of SCD relies mainly on the implantation of an automatic defibrillator. The challenge is to identify patients who will develop SCD and avoid implanting an implantable cardioverter defibrillator (ICD) in patients who will never develop arrhythmias but who will face complications related to the ICD (inappropriate shocks, infection, lead failure), leading to a reduced quality of life and significant costs for the healthcare system. However, there is a lack of relevant clinical and biological markers for risk stratification, which rules out any possibility of preventive screening. Most of the clinical and ECG (electrocardiogram) parameters identifying an increased risk of SCD have not been reproduced in replication studies.
In this project, the investigator will develop a data processing and analysis pipeline using artificial intelligence methods to assess the individual risk of serious arrhythmic events or heart failure in patients with hereditary arrhythmic diseases or cardiomyopathies through the automated processing of multimodal data (clinical data, electrocardiogram (ECG), imaging (echocardiography, MRI magnetic resonance imaging), genetic data, biomarkers).
The eligibility of patients (index cases and related cases) for the study will be determined during a cardiology consultation or day hospitalisation, carried out as part of routine care.
The investigator undertakes to obtain the person's free, informed and express consent, collected in writing, after providing them with oral and written information on the protocol and allowing them sufficient time to reflect. In the case of a minor patient, the investigator undertakes to inform the minor patient and their legal representatives orally and in writing and to obtain the minor's assent, i.e. their oral or written agreement depending on their age, and the written consent of their legal representatives.
Specific acts for research:
Clinical data will be collected in a parameterised and secure eCRF (electronic Case Report Form).
Patients will be followed in the routine care for maximum 10 years. Arrhythmias, heart failure and sudden cardiac death will be collected during follow-up.
A data processing and analysis pipeline using artificial intelligence methods to assess the individual risk of serious arrhythmic events or heart failure in patients with hereditary arrhythmic diseases or cardiomyopathies through the automated processing of multimodal data (clinical data, electrocardiogram (ECG), imaging (echocardiography, MRI magnetic resonance imaging), genetic data, biomarkers) will be developped.
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| Measure | Description | Time Frame |
|---|---|---|
| Arrhythmic and heart failure risk stratification | to assess the arrhythmic risk and/or risk of heart failure in patients with hereditary heart disease at 5, 8 and 10 years, using a model combining clinical, electrocardiographic, imaging, genetic and biomarker data. | 5, 8 and 10 years |
| Measure | Description | Time Frame |
|---|---|---|
| Demographics data | Determine the risk of arrhythmia and/or heart failure based on demographics data | 5, 8 and 10 years |
| Diagnosis of Brugada syndrome | Evaluate the diagnostic performance of the model combining clinical, electrocardiographic, genetic and biomarker data for the identification of Brugada syndrome. |
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Inclusion Criteria :
I. hereditary heart disease II. All relatives of patients III. Patients referred to the reference centre for suspected hereditary rhythm disorders or cardiomyopathies IV. Written consent V. social security scheme
Exclusion Criteria :
I. Patients participating in a therapeutic trial that may interfere with the research results II. Patients under guardianship or curatorship.
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All adult and minor patients with hereditary heart disease or cardiomyopathies and their relatives.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Vincent Probst, PU-PH | Contact | 02 40 16 56 99 | vincent.probst@chu-nantes.fr | |
| Aurélie Thollet | Contact | aurelie.thollet@chu-nantes.fr |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU de Bordeaux | Not yet recruiting | Bordeaux | France |
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| 5 years |
| CHU de Brest | Not yet recruiting | Brest | France |
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| CHU de Clermont-Ferrand | Not yet recruiting | Clermont-Ferrand | France |
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| CHU de Dijon | Not yet recruiting | Dijon | France |
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| CHU de La Rochelle | Not yet recruiting | La Rochelle | France |
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| CHU de Limoges | Not yet recruiting | Limoges | France |
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| CHU de Montpellier | Not yet recruiting | Montpellier | France |
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| CHU de Nantes | Recruiting | Nantes | 44093 | France |
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| CHU de Poitiers | Not yet recruiting | Poitiers | France |
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| CHU de Rennes | Not yet recruiting | Rennes | France |
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| CHU de Strasbourg | Not yet recruiting | Strasbourg | France |
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| CHU de Toulouse | Not yet recruiting | Toulouse | France |
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| CHU de Tours | Not yet recruiting | Tours | France |
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| CHU de la Martinique | Not yet recruiting | Fort-de-France | Martinique |
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| CHU de la Réunion | Not yet recruiting | Saint-Pierre | Reunion |
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