TY - JOUR
T1 - Iliac artery dissection and rupture in a patient with classic Ehlers-Danlos syndrome due to COL5A1 null variant
AU - Pujari, Amit
AU - Shalhub, Sherene
N1 - Publisher Copyright:
© 2024 The Authors
PY - 2024/6
Y1 - 2024/6
N2 - This is a case of a 46-year-old woman who presented with right common iliac artery dissection preceded by a left common iliac artery dissection and rupture 6 years earlier. Both iliac arteries required repair. Based on her presentation, she met the clinical diagnostic criteria for vascular Ehlers-Danlos syndrome; however, the genetic workup demonstrated that she had classic Ehlers-Danlos syndrome due to a null variant in COL5A1, which is rarely associated with arteriopathy.
AB - This is a case of a 46-year-old woman who presented with right common iliac artery dissection preceded by a left common iliac artery dissection and rupture 6 years earlier. Both iliac arteries required repair. Based on her presentation, she met the clinical diagnostic criteria for vascular Ehlers-Danlos syndrome; however, the genetic workup demonstrated that she had classic Ehlers-Danlos syndrome due to a null variant in COL5A1, which is rarely associated with arteriopathy.
KW - COL5A1
KW - Classic Ehlers-Danlos syndrome
KW - Connective tissue disorder
KW - Genetic arteriopathy
KW - Iliac artery aneurysm
KW - Iliac artery dissection
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U2 - 10.1016/j.jvscit.2024.101443
DO - 10.1016/j.jvscit.2024.101443
M3 - Article
AN - SCOPUS:85188799756
SN - 2352-667X
VL - 10
JO - Journal of Vascular Surgery Cases, Innovations and Techniques
JF - Journal of Vascular Surgery Cases, Innovations and Techniques
IS - 3
M1 - 101443
ER -