Impact on Risk Stratification of Overlap Syndrome Phenotype in Patients With E1784K Mutation in SCN5A (RISKOVER)

Centre Hospitalier Universitaire de la Réunion

Status: Completed

Conditions: Cardiac Conduction System Disease; Arrhythmias, Cardiac; Long QT Syndrome; Brugada Syndrome

Study type: Observational

Funder types: Other

Identifiers

NCT05274646

2021/CHU/36

Details and patient eligibility

About

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 )

Full description

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.

Enrollment: 47 patients

Sex: All

Ages: 12+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• genotype E1784K (glu1784lys) in SCN5A gene

Exclusion criteria

• none

Trial design

47 participants in 2 patient groups

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)