Article
Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths.
International journal of molecular sciences - 29 Apr 2021
Monasky Michelle M, Micaglio Emanuele, Ciconte Giuseppe, Rivolta Ilaria, Borrelli Valeria, Ghiroldi Andrea, D'Imperio Sara, Binda Anna, Melgari Dario, Benedetti Sara, Mitrovic Predrag, Anastasia Luigi, Mecarocci Valerio, Ćalović Žarko, Casari Giorgio, Pappone Carlo
Abstract excerpt
Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history of sudden death is generally not considered useful for arrhythmic risk stratification. We sought to demonstrate the usefulness of genetic testing and family history...
Topics
- Adolescent
- Adult
- Aged
- Ajmaline
- Amino Acid Substitution
- Brugada Syndrome
- Death, Sudden, Cardiac
- Electrocardiography
- Female