Novel Phenotypic Effects of a Rare SCN5A (c.2482C>T) Mutation.
JACC Case Rep
; 29(4): 102212, 2024 Feb 21.
Article
em En
| MEDLINE
| ID: mdl-38379642
ABSTRACT
In a familial cohort with 8 heterozygous carriers of a rare pathogenic SCN5A mutation (c.2482C>T), 4 female mutation carriers manifested with fetal ventricular tachycardia and 21 atrioventricular block. One presented with multifocal ectopic premature Purkinje-related complexes-like phenotype and atrial fibrillation later in life. These novel findings inform the need for robust fetal monitoring of mutation carriers.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
JACC Case Rep
Ano de publicação:
2024
Tipo de documento:
Article