A novel CTNND1 genotype-phenotype association: total anomalous pulmonary venous connection in a fetus.

We present the first case of CTNND1 variant with a prenatal clinical phenotype of total anomalous pulmonary venous connection. The genetic analysis identified a heterozygous pathogenic variant NM_001085458.2: c.2098C>T (p.R700*) in the CTNND1 gene of the fetus. This case expands the phenotypic spectrum of CTNND1 gene, provides a novel clinical reference for prenatal diagnosis, and suggests that the CTNND1 gene plays a crucial role in early cardiac development.