PMC6068337_01
Pedigree of family with hereditary hemorrhagic telangiectasia with genetic mutation. Filled and open symbols means affected and unaffected individuals, respectively. Genetic testing was performed on individuals represented by filled symbols. SA; spontaneous abortion, VSD; ventricular septal defect.
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The family pedigree is presented in Fig. 1.
DNA sequencing results. All patients and their mother exhibited a new ENG mutation (NM_001114753.1: c. 1517T>C, NP_001108225.1: p. Leu506Pro).
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Genetic testing of the mother and four siblings identified a new mutation of endoglin gene, ENG c.1517T>C (p.Leu506Pro) (RefSeq accession number NM_001114753.1) (Fig. 2).
PMC6068337_02
Case 1. Three-dimensional computed tomography (3D-CT) angiography reveals a large pulmonary arteriovenous malformation (PAVM, arrow) located in the subpleural area of the right segment (S) 10. The size is 60 mm in diameter and feeding pulmonary artery is 10mm in diameter.
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Chest CT revealed a PAVM located in the right segment (S) 10, which was 60 mm in diameter (Fig. 3).
PMC6068337_03
Case 2.3D-CT angiography reveals PAVMs (arrows) located in right middle and lower lobe, and left upper lobe. They are located in right S4, S6, and left S4. The sizes of them are 5 mm, 7 mm and 5 mm in diameter, respectively. They are simple type and supplied by a feeding artery of 3-4 mm in diameter.
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Chest CT revealed multiple PAVMs in the right S4, the right S6 and the left S4 (Fig. 4) and they were 5 mm, 7 mm and 5 mm in size, respectively.
PMC6068337_04
Case 3.3D-CT angiography reveals multiple PAVMs located in bilateral peripheral lung. The largest PAVM (arrow) with complex type is located in right S10.
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Chest CT revealed multiple PAVMs in both lungs (Fig. 5).
PMC6068337_05
Case 4. Chest CT shows three PAVMs (arrows) in right upper lobe (A), lower lobe (B) and left lower lobe.
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Chest CT revealed small diffuse PAVMs with a feeding artery of less than 3 mm in diameter in both lungs (Fig. 6).