Key result
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.
Why the study?
NKX2-5 mutations cause congenital heart disease, conduction disorders, or cardiomyopathies, but an overlapping phenotype is not frequently reported in the literature.
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.
May inform genetic counseling in similar families; extends NKX2-5 phenotype but leaves broader applicability open.
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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Morlanes-Gracia et al. (2021) 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.
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