PMC9299261_01
Schematic diagram of the patient's diagnosis of 3 coronary artery fistulas to the right atrium and right ventricle, respectively (A). Four collateral arteries draining through a sac to the top of the right atrium (A,B). Super-selective angiogram shows the following collaterals terminating to the sac and then to the right atrium. No. 1 collateral artery originating from the right subclavian artery (C). No. 2 at the level of the 6th thoracic vertebra (D). No. 3 originating from the descending aorta (E). No. 4 located at the lower edge of the 9th thoracic vertebra (F). Surgical image of the sac at the top of the right atrium (G).
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F1
No. 1 (4.3 mm in diameter) of the collateral arteries was originating from the right subclavian artery (Figures 1A,C). No. 2 was seen at the level of the 6th thoracic vertebra and twisted to the right atrium (Figures 1B,D). No. 3 was a tortuous collateral artery (2.7 mm at the proximal and 1.7 mm at the minimal), located between the 6th and the 7th thoracic vertebra (Figures 1B,E). No. 4 was a very tortuous collateral artery between the descending aorta and the right atrium (Figures 1B,F). Coronary arterial angiography also revealed a right coronary arterial fistula to the right ventricle and another to the right atrium (Figures 1A, 2A), and a fistula branching from the left anterior descending coronary artery to the right atrium (Figures 1A, 2B). A 15-mm sac was found an opening to the top of the right atrium (Figures 1A,G).
Right coronary angiogram from left anterior oblique 45  view shows the dilated right coronary artery fistula with a proximal fistula to the right atrium and a distal fistula into the right ventricle (A). Left coronary angiogram shows a fistula from the left anterior descending coronary artery to the right atrium (B).
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F2
Coronary arterial angiography also revealed a right coronary arterial fistula to the right ventricle and another to the right atrium (Figures 1A, 2A), and a fistula branching from the left anterior descending coronary artery to the right atrium (Figures 1A, 2B).
Schematic diagram of filtering strategies in our report. Several variant filtering processes and candidate gene prioritization were applied. Only one candidate gene was associated with CHD (A). Pedigrees of the patient's family. The filled and unfilled symbols represent subjects with and without CHD, respectively. Arrow indicates the proband of the family. DRC1 genotypes are shown near each symbol, WT represents wide type (B). Multiple sequence alignment of the DRC1 protein sequences indicates the Leu157 residue and Asp541 residue are highly conserved among various species (C). Schematic of domains within DRC1 protein. Rare variants p.L678Q and p.Y674C in DRC1 had been identified in CHD mouse by Li et al., while compound heterozygous variant, c.T470G (p.L157R) and c.A1622G (p.D541G), in DRC1 was identified in our patient of which c.T470G (p.L157R) variant was lined in NYD-SP28 domain (D).
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F3
A total of 175,380 variants, including 155,400 SNVs and 19,970 indels, were detected and analyzed by several filtering methods (Figure 3A). In our patient, the compound heterozygous variations, c.T470G (p.L157R) adopted from her father and c.A1622G (p.D541G) adopted from her mother, in the DRC1 gene were considered as diseased causal mutations (Figure 3B). Furthermore, homology analysis indicated that leucine at position 157 and aspartic at position 41 are highly conserved among various species (Figure 3C).