case_images: PMC11813233_01
case_images: A) Samples from the patients belonging to two Han Chinese families
  (JX001 & JX002) and their facial features. B) Computed
  tomography angiography test showed the following disorders in two
  patients: Standford Type B aortic dissection (blue arrows),
  thoracoabdominal aortic aneurysm (red arrows in Figure 1B, right),
  hepatic arterial aneurysms (red arrows in Figure 1B, left), and
  tortuous vertebral arteries (yellow arrows).
case_images: bjcvs-40-01-e20230495-g01.jpg
case_images: PMC11813233_02_bjcvs-40-01-e20230495-g01.jpg
case_images: F1
case_images: TAAA was ruptured (Figure 1B). The laboratory exams revealed that the patient's hemoglobin level was 72 g/L, and like the other laboratory examinations, levels of antiphospholipid antibodies, immunoglobulins, ANCAs, ANAs, and RF were normal. B dissection (Figure 1B). Based on these results, endovascular therapy was administered to the patient. States of America) and embolism of a subclavian artery for the novel Standford type B aortic dissection (Figure 1B). Following the second operation, the patient's recovery was excellent. Subsequently, the patient received follow-up care every three to six months, and she is currently in excellent health.
case_images: PMC11813233_02
case_images: A) Samples from the patients belonging to two Han Chinese families
  (JX001 & JX002) and their facial features. B) Computed
  tomography angiography test showed the following disorders in two
  patients: Standford Type B aortic dissection (blue arrows),
  thoracoabdominal aortic aneurysm (red arrows in Figure 1B, right),
  hepatic arterial aneurysms (red arrows in Figure 1B, left), and
  tortuous vertebral arteries (yellow arrows).
case_images: bjcvs-40-01-e20230495-g01.jpg
case_images: PMC11813233_02_bjcvs-40-01-e20230495-g01.jpg
case_images: F1
case_images: TAAA was ruptured (Figure 1B). The laboratory exams revealed that the patient's hemoglobin level was 72 g/L, and like the other laboratory examinations, levels of antiphospholipid antibodies, immunoglobulins, ANCAs, ANAs, and RF were normal. B dissection (Figure 1B). Based on these results, endovascular therapy was administered to the patient. States of America) and embolism of a subclavian artery for the novel Standford type B aortic dissection (Figure 1B). Following the second operation, the patient's recovery was excellent. Subsequently, the patient received follow-up care every three to six months, and she is currently in excellent health.
case_images: Different gene mutation sites in JX001-II1 and JX002-II1.
case_images: bjcvs-40-01-e20230495-g02.jpg
case_images: PMC11813233_02_bjcvs-40-01-e20230495-g02.jpg
case_images: F2
case_images: ACTA2) of the probands JX001-II1 and JX002-II1 was performed to identify the genetic cause. The identified rare missense variants c.605C>T (JX001-II1) and c.679G>A (JX002-II1) are both positioned in exon 1 of TGFBR1 (NM_004612.4) and it results in the substitution of highly conserved 202 alanine (Ala) for valine (Val) (P.Ala202Val, JX001-II1) and 227 glutamic acids (Glu) for lysine (Lys) (P.Glu227Lys, JX002-II1) (Figure 2). Sanger sequence analysis of DNA fragments covering all exons along with the flanking sequences of TGFBR1 established that symptomatic subjects carried the heterozygous c.605C>T (JX001-II1) and c.679G>A (JX002-II1) variants. According to the ACMG guidelines for the interpretation of sequence variants, P.A202V and P.E227K were assessed to be likely pathogenic and of uncertain significance (suspected pathogenic), respectively.