Article
Novel SCN5A mutations in two families with "Brugada-like" ST elevation in the inferior leads and conduction disturbances.
Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing - 1 Aug 2013
Maury Philippe, Moreau Adrien, Hidden-Lucet Francoise, Leenhardt Antoine, Fressart Veronique, Berthet Myriam, Denjoy Isabelle, Bennamar Nawal, Rollin Anne, Cardin Christelle, Guicheney Pascale, Chahine Mohamed
Abstract excerpt
AIMS: Brugada syndrome (BrS) is an inherited cardiac disease characterized by ST segment elevation in V1-V3 ECG leads. Mutations SCN5A gene encoding for the cardiac voltage-gated Na(+) channel are found in some BrS patients, but also in family members with isolated conduction disturbances. Howeve...
Topics
- Adolescent
- Brugada Syndrome
- Diagnosis, Differential
- Electrocardiography
- Genetic Markers
- Genetic Predisposition to Disease
- Humans
- Male
- Middle Aged
- Mutation
- NAV1.5 Voltage-Gated Sodium Channel
- Pedigree
- Polymorphism, Single Nucleotide