TY - JOUR
T1 - Peripartum iliac arterial aneurysm and rupture in a patient with vascular ehlers-danlos syndrome diagnosed by next-generation sequencing
AU - Koitabashi, Norimichi
AU - Yamaguchi, Tomomi
AU - Fukui, Daisuke
AU - Nakano, Takahide
AU - Umeyama, Atsushi
AU - Toda, Kazuyoshi
AU - Funada, Ryuichi
AU - Ishikawa, Masumi
AU - Kawamura, Rie
AU - Okada, Kenji
AU - Hatamochi, Atsushi
AU - Kosho, Tomoki
AU - Kurabayashi, Masahiko
N1 - Publisher Copyright:
© 2018, International Heart Journal Association. All rights reserved.
PY - 2018
Y1 - 2018
N2 - Vascular Ehlers-Danlos syndrome (vEDS), a genetic disorder caused by mutations in procollagen type III gene (COL3A1), may lead to fatal vascular complication during peripartum period because of the arterial fragility. We experienced a case of vEDS with peripartum life-threatening arterial rapture diagnosed by next-generation sequencing (NGS) and successfully treated the vascular complications. A 25-year-old female in pregnancy at 34 weeks had sudden and acute pain in the left lower abdomen. After successful delivery, her computed tomography scan showed a dissecting aneurysm of the left common iliac artery (CIA). Four days after delivery, she presented in hemorrhagic shock induced by arterial rupture in the CIA. Since her clinical presentations inferred vEDS even in the absence of familial history, we performed NGS-based genetic screening for inherited connective tissue disorders including vEDS with informed consent. Even though we started intensive medication, her iliac aneurysm was progressively enlarging within 3 weeks. After an urgent molecular diagnosis for vEDS (a splice-site mutation), cautious endovascular therapy for her CIA aneurysm was successfully performed. This is the first report for pretreatment molecular diagnosis of vEDS using NGS in an emergent situation of severe vascular complications.
AB - Vascular Ehlers-Danlos syndrome (vEDS), a genetic disorder caused by mutations in procollagen type III gene (COL3A1), may lead to fatal vascular complication during peripartum period because of the arterial fragility. We experienced a case of vEDS with peripartum life-threatening arterial rapture diagnosed by next-generation sequencing (NGS) and successfully treated the vascular complications. A 25-year-old female in pregnancy at 34 weeks had sudden and acute pain in the left lower abdomen. After successful delivery, her computed tomography scan showed a dissecting aneurysm of the left common iliac artery (CIA). Four days after delivery, she presented in hemorrhagic shock induced by arterial rupture in the CIA. Since her clinical presentations inferred vEDS even in the absence of familial history, we performed NGS-based genetic screening for inherited connective tissue disorders including vEDS with informed consent. Even though we started intensive medication, her iliac aneurysm was progressively enlarging within 3 weeks. After an urgent molecular diagnosis for vEDS (a splice-site mutation), cautious endovascular therapy for her CIA aneurysm was successfully performed. This is the first report for pretreatment molecular diagnosis of vEDS using NGS in an emergent situation of severe vascular complications.
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U2 - 10.1536/ihj.17-451
DO - 10.1536/ihj.17-451
M3 - Article
C2 - 30158381
AN - SCOPUS:85054138292
SN - 1349-2365
VL - 59
SP - 1180
EP - 1185
JO - International heart journal
JF - International heart journal
IS - 5
ER -