Abstract
BACKGROUND: Tetralogy of Fallot (TOF) and hypertrophic cardiomyopathy (HCM) are common types of congenital heart disease with unique pathophysiologic features. Mutations in LBX1, a key regulator of muscle precursor cell migration, may disrupt these critical developmental processes, resulting in severe developmental abnormalities. CASE PRESENTATION: This case reports on a 4-year-old girl diagnosed with both TOF and HCM. Genetic analysis revealed iUPI-F (uniparental disomy) on the entire chromosome 10, with a c.808G > A (p. Glu270Lys) pure mutation in the LBX1. CONCLUSION: This patient exhibited both TOF and HCM with mutations in the LBX1 gene, suggesting a potentially novel genetic link. This case study emphasizes the need for further studies on the function of the LBX1 gene in cardiac development and its potential impact on TOF and HCM.