PMC7411145_01
Echocardiogram examinations of the proband at different time points. Representative image of the echocardiogram of the proband's left ventricle obtained in the parasternal long-axis view (A) shows a ventricular septal defect (VSD) (0.484 cm) at 1 month of age. Representative image of the echocardiogram (B) shows a more severe VSD, which is enlarged to 1.04 cm, in the proband's heart at 5 months of age. The largest distances of VSD are marked by green dash lines and measured.
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F1
A heart ultrasound examination showed that she had large ventricular septal defect (perimembranous), atrial septal defect (secondary foramen), and severe pulmonary hypertension (Figure 1). The VSD progressed from 0.484 to 1.04 cm in 4 months, as determined by echocardiogram (Figure 1), indicating that the defect becomes more severe (a larger percentage of VSD enlargement than her body growth).
Pedigree of the reported family. The proband (V-4) is indicated with an arrow. The proband's mother (IV-4) has a normal phenotype. V-1, V-4, IV-5, III-3, III-5, III-7, and II-4 were reported to have cardiac abnormalities. The proband (V-4) had a surgery at 6 months. IV-5 and V-1 were found to suffer from VSD earlier than the proband. V-1 died at 90 days postnatal; IV-5 is alive after she had a surgery 30 years ago. The karyotype of the proband's father (IV-3), brother (V-3), aunt (IV-2), and cousin (V-2) are the same as the proband's karyotype. The proband's grandfather (III-3) and other relatives (II-4, III-5, and III-7) died of heart disease according to information provided by the proband's father (Y, years; M, month; d.3M, died at the age of 3 months). The individuals with a confirmed VSD are filled in black. The individuals reported to be having other cardiac diseases are filled in gray. The individuals who have done the karyotype examination in this study are indicated with a shadow.
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F2
Another biological aunt (IV-2) also had a child (V-1) with VSD 13 years ago and who died 3 months after birth (Figure 2).
The proband carries a chromosomal inversion in chromosome 6.Representative G banded chromosomes from the proband. Enlarged chromosome 6 is shown at the left. The karyotype represents a p21.3 in chromosome 6 invasion with p23 <46, XX, inv (6) (p21.3p23)>. An ideogram of chromosome 6 is shown. The breakpoints are indicated in the ideogram.
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F3
As a result, a chromosomal inversion in chromosome 6<46, XX, inv (6) (p21.3p23)> was found (Figure 3).