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In patients expressing the SCN5A-E1784K mutation (Glu1784Lys), cardiovascular risk is difficult to define as the stratification of these patients is challenging. From our experience, major cardiovascular events (MCE) tend to occur more frequently in patients expressing overlap syndrome phenotype (Brugada syndrome and Long QT syndrome type 3)than in patients expressing a single phenotype (whether Brugada syndrome or Long QT syndrome type 3). This trials is led on the impact on Risk Stratification of Overlap Syndrome Phenotype in Patients With E1784K Mutation in SCN5A ( RISKOVER )
Study design: This study will compare the occurrence of MCE between patients with overlap syndrome phenotype and patients with a single phenotype (whether Brugada syndrome or Long QT syndrome type 3) in a cohort of patients 12 years of age and older with the SCN5A-E1784K mutation. Eligible patients will be identified nationwide and included retrospectively and prospectively. Occurrence of MCE between the group " overlap syndrome " and the group " single phenotype " will be compared.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| E1784K (glu1784lys) in SCN5A expressing either Long QT syndrome type 3 or Brugada syndrome | |||
| E1784K (glu1784lys) in SCN5A expressing both syndromes (Long QT syndrome and Brugada syndrome) |
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| Measure | Description | Time Frame |
|---|---|---|
| Occurrence of MCE | occurrence of syncop, sudden cardiac death, ventricular arrhythmia, cardiopulmonary arrest collected by a series of medical questions | at inclusion |
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Inclusion Criteria:
Exclusion Criteria:
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patients with hereditary cardiac disease
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| Name | Affiliation | Role |
|---|---|---|
| Maxime CHURET, MD | CHU de La Réunion | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU de La Réunion | Saint-Pierre | France | 97440 | Reunion |
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| ID | Term |
|---|---|
| D008133 | Long QT Syndrome |
| D053840 | Brugada Syndrome |
| D000075224 | Cardiac Conduction System Disease |
| D001145 | Arrhythmias, Cardiac |
| C537034 | Long QT syndrome type 3 |
| C565840 | Long Qt Syndrome 3 |
| ID | Term |
|---|---|
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D006330 | Heart Defects, Congenital |
| D018376 | Cardiovascular Abnormalities |
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| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D030342 | Genetic Diseases, Inborn |