Vascular Ehlers–Danlos syndrome in 2 Polish patients: identification of 2 novel COL3A1 gene mutations

gene, mostly heterozygous missense mutations, typically glycine substitutions in the Gly -X-Y repeat, or splice -site variants affecting the triple helical sequence leading to altered type III collagen synthesis and assembly. 2,3 As a consequence of a molecular defect in the COL3A1 gene, resistance to mechanical stress of the arteries, bowel, and uterus is decreased. 4 Women with vEDS have an increased risk of obstetric complications including uterine rupture and dissection of major arteries and veins. 5o our knowledge, we report the first 2 Polish patients with vEDS in whom new causal mutations have been detected.Case 1 A 33-year -old woman (height, 158 cm; weight, 48 kg) was referred to John Paul II Hospital, Kraków, Poland, for genetic workup.At the age of 2, she underwent Achilles tenotomy due to clubfoot, and at the age of 29, she underwent stent implantation for the spontaneous right common iliac artery aneurysm and dissection.At the age of 32, she experienced spontaneous sigmoid colon perforation and underwent colostomy with partial colectomy.She was pregnant twice and gave birth by uneventful vaginal delivery.Currently, computed tomography angiography showed that the ascending and descending aortic segments were not dilated; the maximum diameter of the abdominal aorta at the level of the bifurcation was 20 mm, along with dilation