PMC10315819_01
Angiograms of the right inferior diaphragmatic artery. (A) Digital Subtraction Angiography Hypertrophy of the right inferior diaphragmatic artery and evidence of 2 aneurisms (*). (B) Angiogram: Post Coil embolization using Interlock mechanically detachable coils (Boston Scientific, Natick, MA) and The Concerto  Helix and 3D detachable coil systems (Medtronic Inc Minneapolis MN, US).
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F1
These findings were confirmed by the angiograms (Figure 1A) and treated via selective coil embolization (Figure 1B). The shunts were then treated via selective embolization as well (Figure 1B). Subsequent testing of parental samples demonstrated that the variant originated de novo (Supplementary Figure S1).
Digital subtraction angiography. Intercostal hypertrophic artery (*) and artero, venous fistula between this artery and the inferior right pulmonary vein (#).
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F2
Later, selective catheterization of this artery demonstrated arterial-venous shunts between it and the pulmonary vein for the right lower pulmonary lobe (Figure 2).
COL3A1 BAM from IGV. The c.1889G > A variant is detected in heterozygosity. Cov: coverage; AF: allelic fraction of alternative called base (A).
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F3
TGFB1, TGFB2, TGFBR1, TGFBR2, TNXB) via next-generation sequencing. The analysis identified the novel heterozygous missense variant c.1889G > A causing the amino-acid substitution p.(Gly630Glu) in COL3A1 (NM_000090.3) (Figure 3).