PMC9685306_01
Preoperative examination of the 25-year-old female patients. (A) Undeveloped secondary sexual characteristics. CTA shown aortic dissection involving the ascending (B) and abdominal aorta (C), F, false lumen. (D) Thoracic endovascular aortic stent was grafted (arrow); no uterus or ovaries was found between urinary bladder and rectum by CTA (E,F, arrowhead) and transabdominal ultrasound (G, arrowhead). CTA, computed tomography angiography; F, false lumen.
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F1
Undeveloped secondary sexual characteristics were found during physical examination (Figure 1A). Computed tomography angiography (CTA) showed that her AD involved the ascending (Figure 1B) and abdominal aorta (Figure 1C). She had undergone thoracic endovascular aortic stent graft implantation (Figures 1B,D, arrow) in a local hospital due to acute Stanford type B aortic dissection at age 19. No uterus or ovaries was found by CTA (Figures 1E,F, arrowhead) and transabdominal ultrasound (Figure 1G, arrowhead).
PMC9685306_02
Genetic examination of the proband and proband's families. (A) Karyotyping analyses revealed a normal 46,XX karyotype. (B) Family tree. (C) Sanger sequencing validated the mutation of ACTA2 c.773G>A and MYH11 c.5081A>G in the proband and her brother.
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F2
G-banded karyotyping analysis revealed a normal 46,XX karyotype (Figure 2A). MYH11 gene (MYH11; NM_002474.2; c.5081A>G; p.Glu1694Gly) and ACTA2 gene (ACTA2; NM_001613.2; c.773G>A; p.Arg258His). MYH11 c.5081A>G was carried by the patient, her mother, and her brother, and ACTA2 was only carried by the patient (Figure 2B). The WES results were validated by Sanger sequencing (Figure 2C).
CTA of abdominal aortic dissection in the 25-year-old female patient. (A-C) The false lumen at the position of intimal tears before surgery (32.8 x 22.8 mm2), 7 days after surgery (32.6 x 22.2 mm2), and 6 months after surgery (35.9 x 26.8 mm2). (D-F) Maximum diameter of the false lumen of AAD before surgery (38.9 x 23.1 mm2), 7 days after surgery (39.3 x 24.6mm2), and 6 months after surgery (40.9 x 29.1 mm2). CTA, computed tomography angiography; F, false lumen.
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F3
The patient refused to receive HRT after surgery, and her abdominal aortic dissection (AAD) was progression during a 6-month follow-up (Figures 3A-F). The false lumen of AAD at intimal tears (Figures 3A-C) and maximum diameter (Figures 3D-F) both expanded slightly 7 days after surgery and rapidly expanded 6 months after surgery.