Journal List > Perinatology > v.28(4) > 1071357

Kim and Kang: The Vascular Type Ehlers-Danlos Syndrome Diagnosed after Delivery

Abstract

Vascular Ehlers-Danlos sydrome (vEDS) is a life-threatening autosomal dominant inherited disorder of connective tissue characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. vEDS results from mutation of COL3A1, which encodes the chains of type III collagen, a major protein in vessel walls and hollow organs. A 32-year-old primigravida had aneurysmal rupture in right posterior popliteal artery 9 days after induced vaginal delivery. The reason of labor induction was preterm premature rupture of membrane. She was diagnosed with vEDS by sequence analysis of COL3A1 mutation. A multidisciplinary team is required to provide tailored counseling and education about vEDS. Also, a long term follow up is need for individuals with vEDS.

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Fig. 1
Computed tomography venography revealed aneurysmal rupture of right posterior tibial artery (arrow) with hematoma formation (arrowheads) without deep vein thrombosis.
pn-28-166f1.tif
Fig. 2
Axial scan of contrast-enhanced computed tomography (CT) angiography (A) showed aneurysmal dilatation of right proximal posterior tibial artery (arrow) with adjacent hematoma (arrowheads). CT angiography with three-dimensional reconstruction scan (B) also revealed aneurysmal dilatation of right proximal posterior tibial artery (arrow).
pn-28-166f2.tif
Fig. 3
Computed tomography (CT) angiography with three-dimensional reconstruction scan (A) showed luminal irregularity in common iliac artery, external iliac artery (arrowheads). Axial scan of contrast-enhanced CT angiography (B) also showed luminal irregularity of celiac trunk (arrow).
pn-28-166f3.tif
Table 1.
Diagnostic Criteria for Vascular Ehlers-Danlos Syndrome (vEDS)7
Major criteria
1. Family history of vEDS with documented causative variant in COLA3A1
2. Arterial rupture at a young age
3. Spontaneous sigmoid colon perforation in the absence of known
diverticular disease or other bowel pathology
4. Uterine rupture during the third trimester in the absence of previous
cesarean section and/or Severe peripartum perineum tears
5. Carotid-cavernous sinus fistula formation in absence of trauma
Minor Criteria
1. Bruising unrelated to identified trauma and/or in unusual sites such as
cheeks and back
2. Thin, translucent skin with increased venous visibility
3. Characteristics facial appearance
4. Spontaneous pneumothorax
5. Acrogeria
6. Talipes equinovarus
7. Congenital hip dislocation
8. Hypermobility of small joints
9. Tendon and muscle rupture
10. Keratoconus
11. Gingival recession and gingival fragility
12. Early onset of varicose veins (under age 30 and nulliparous if female)
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