PMC10235691_01
Antenatal ultrasound image. (A) The four-chamber view shows that the right ventricular cavity was significantly larger than the left cardiac cavity, the latter of which was still apex forming. (B) A ventricular septal defect was found just below the aortic outflow, as seen via two-dimensional imaging and color Doppler imaging. (C) A three-vessel view demonstrated a significantly larger main pulmonary artery relative to the aorta (PA > 1.6 AO), the latter of which was smaller than the superior vena cava. (D) A long-axis image of the aortic arch demonstrated diffuse hypoplasia of the arch to the isthmus and a posterior shelf (arrow), in keeping with the aortic coarctation. Abbreviations: LV, left ventricle; RV, right ventricle; LA, left atrium; VSD, ventricular septal defect; RA, right atrium; PA, pulmonary artery; LPA, left pulmonary artery; RPA, right pulmonary artery; SVC, superior vena cava; DAO, descending aorta; LSCA, left subclavian artery; AO, aorta.
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F1
The ultrasound results of the fetal heart showed a hypoplastic but apex-forming left ventricle, a hypoplastic aortic arch, coarctation of the aorta, and a ventricular septal defect (Figure 1).
Mutation information. Whole-exome sequencing results show that the CTNND1 in the proband had a frameshift mutation: NM_001085458.2: c.566_c.567insG (p.Pro190fs*15). Both parents harbored wild-type CTNND1, suggesting a de novo mutation. Sanger sequencing confirmed this mutation.
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F2
Sanger sequencing results confirmed the presence of this mutation in the fetus (Figure 2).