A novel missense mutation in the NKX2-5 gene (p.Gln181Pro) was identified in a family, cosegregating with atrial septal defect, left ventricular non-compaction, conduction disease, and sudden cardiac death.
Case Report (n=10)
A novel NKX2-5 mutation (p.Gln181Pro) is associated with a severe overlapping phenotype of congenital heart disease, left ventricular non-compaction, conduction disease, and sudden cardiac death, highlighting the importance of genetic testing and risk stratification in affected families.
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).
Morlanes-Gracia et al. (Thu,) conducted a case report in Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, Sudden Cardiac Death (n=10). NKX2-5 mutation (p.Gln181Pro) vs. Family members without the mutation was evaluated on Phenotypic presentation. A novel missense mutation in the NKX2-5 gene (p.Gln181Pro) was identified in a family, cosegregating with atrial septal defect, left ventricular non-compaction, conduction disease, and sudden cardiac death.