Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death.
Front Cardiovasc Med
; 8: 691203, 2021.
Article
em En
| MEDLINE
| ID: mdl-34277740
ABSTRACT
The NKX2-5 gene encodes for a transcription factor crucial for cardiac cell differentiation and proliferation. It was the first gene associated with congenital heart disease (CHD) in humans and has been linked to conduction disorders or cardiomyopathies. However, an overlapping phenotype is not frequent in the literature. We describe a family with a novel missense mutation in the NKX2-5 gene (p.Gln181Pro) with numerous antecedents with atrial septal defect (ASD), left ventricular non-compaction (LVNC), conduction disease, and sudden cardiac death (SCD).
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1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Front Cardiovasc Med
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Espanha