PMC9452660_01
Dilation of the capillary on the oral mucosa (A) and the palm (B) (black arrow).
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F1
Physical examination revealed telangiectasias in the oral mucosa and hand (Figure 1), wet rale from the bottom of the left lung, an atrial fibrillation rhythm, and mild edema in both lower limbs.
Comparison of chest CT before and after the operation. (A) Chest-enhanced CT showed an enhanced vascular mass in the lower part of the right pulmonary artery (white arrow) before operation. (B) Plain CT scan of the chest revealed that the former vascular mass had disappeared after the operation.
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F2
Chest computed tomography (CT) displayed that compared to the prior CT scan (about 10 months ago, Figure 2), the abnormal dilated vascular mass in the lower lobe of the right lung showed postoperative change.
WES result for Case 1's patient. The sequencing of heterozygous mutation of the ACVRL1 gene c.1358del.
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F3
Full exon high-throughput gene sequencing was adopted to detect mutations, and the results were heterozygous variants of the ACVRL1 gene c.1358del (p.N453T) (Figure 3) in exon9, which has pathogenic significance according to biological analysis.
PMC9452660_02
(A) Chest-enhanced CT image in the arterial phase showed multiple vascular masses in bilateral lungs, mainly in the lower lobe of the right lung, suggesting pulmonary arteriovenous fistula (red arrow). (B) Epigastrium-enhanced CT showed multiple hepatic arteriovenous malformations (black arrow).
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F4
Chest-enhanced CT revealed numerous pulmonary venous fistulas scattered throughout the bilateral lungs (Figure 4A), and abdominal enhanced CT revealed multiple hepatic venous fistulas (Figure 4B).
WES results for Case 2's family. The sequencing of the ENG gene c.509T > C (p.Leu170Pro) results in the proband (A, heterozygous mutation) and his son (G, heterozygous mutation), without in other relatives (B-F).
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F5
C (p.Leu170Pro) (Figure 5), which has a pathogenic significance according to biological analysis. Concurrently, the same heterozygous variant was found in her son. (Figure 5).