Key result
Novel NKX2-5 variant linked to LVNC, ASD, AV block, and syncope in a 12-year-old girl.
Why the study?
A pediatric case involving an NKX2-5 gene variant and left ventricular noncompaction had not been previously reported.
Case Report (n=1)
NKX2-5 variants should be considered in pediatric patients presenting with LVNC, congenital heart disease, arrhythmia, and syncope to help prevent sudden cardiac death.
Novel NKX2-5 variant expands phenotypic associations in pediatric LVNC; leaves screening implications open pending larger studies.
The NKX2-5 gene encodes a transcription factor and is actively involved in heart formation and development. A pediatric case with its variant and left ventricular noncompaction (LVNC) has not been reported. A 12-year-old girl with a history of a surgery for atrial septal detect was referred because of syncope during exercise. The electrocardiogram showed atrioventricular block, and the echocardiogram revealed prominent trabeculations in the left ventricular wall, suggesting LVNC. A novel heterozygous variant in the NKX2-5 gene (NM_004387.1: c.255_256delCT, p.Phe86fs) was identified. NKX2-5 variants should be considered in cases with LVNC, congenital heart disease, arrhythmia, and syncope to prevent sudden cardiac death.
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Yamada et al. (2022) conducted a case report in Left ventricular noncompaction, atrial septal defect, atrioventricular conduction disorder, and syncope (n=1). NKX2-5 gene variant (NM_004387.1: c.255_256delCT, p.Phe86fs) was evaluated. A novel heterozygous variant in the NKX2-5 gene (c.255_256delCT, p.Phe86fs) was identified in a 12-year-old girl with left ventricular noncompaction, atrial septal defect, AV block, and syncope.
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