Figures and tables
TABLE 1:Table 1 presents the symptoms presented in this PA
family. , /, and NA presents the member of this family prsents, not
present or not known to them.
FIGURE
1 : The pedigree of three generations of the PA family.
Pedigree of the
three-generation, Chinese family with two affected individuals. Squares
indicate males, and circles represent females. Black and white symbols
represent affected and unaffected individuals, respectively. The proband
(red arrow) is no longer alive (III-2”).
FIGURE 2 (A-F): The relevant auxiliary examinations before the
surgery: CT scan, electrocardiogram and X-ray of chest.
Figure 2A-2D are the CT scan before surgery (2A. the red arrow shows a
narrow pulmonary artery of the proband; 2B. the red arrow shows the
blood supply of the pulmonary artery was the descending aorta; 2C.D both
show pulmonary atresia as well as an undeveloped pulmonary valve).
Figure 2E is the electrocardiogram of the proband before surgery, which
presents an atrial hypertrophy, ventricular hypertrophy, change in ST
and T waves. Figure 2F is the X-ray of the chest of the proband before
surgery, which presents an increased heart shadow. And the
cardiothoracic ratio of the proband was about 75.9%.
FIGURE 3(A-B) : A: A
mutation was found in the proband, proband’s mother as well as the
proband’s elder brother (Line 1,2 and 6). Line 1 to Line 6 represents
for the proband, the proband’s mother, the proband’s father, the
proband’s sister, the proband’s grandfather, the proband’s grandmother
and the proband’s elder brother. B: The mutation is highly conserved in
various species.