Peripartum iliac arterial aneurysm and rupture in a patient with vascular ehlers-danlos syndrome diagnosed by next-generation sequencing

Norimichi Koitabashi, Tomomi Yamaguchi, Daisuke Fukui, Takahide Nakano, Atsushi Umeyama, Kazuyoshi Toda, Ryuichi Funada, Masumi Ishikawa, Rie Kawamura, Kenji Okada, Atsushi Hatamochi, Tomoki Kosho, Masahiko Kurabayashi

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1180-1185
Number of pages6
JournalInternational heart journal
Volume59
Issue number5
DOIs
Publication statusPublished - 01-01-2018

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Iliac Aneurysm
Ehlers-Danlos Syndrome
Peripartum Period
Blood Vessels
Rupture
Iliac Artery
Dissecting Aneurysm
Mutation
Inborn Genetic Diseases
Collagen Type III
Hemorrhagic Shock
Acute Pain
Genetic Testing
Informed Consent
Abdomen
Connective Tissue
History
Tomography

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine

Cite this

Koitabashi, Norimichi ; Yamaguchi, Tomomi ; Fukui, Daisuke ; Nakano, Takahide ; Umeyama, Atsushi ; Toda, Kazuyoshi ; Funada, Ryuichi ; Ishikawa, Masumi ; Kawamura, Rie ; Okada, Kenji ; Hatamochi, Atsushi ; Kosho, Tomoki ; Kurabayashi, Masahiko. / Peripartum iliac arterial aneurysm and rupture in a patient with vascular ehlers-danlos syndrome diagnosed by next-generation sequencing. In: International heart journal. 2018 ; Vol. 59, No. 5. pp. 1180-1185.
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abstract = "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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Koitabashi, N, Yamaguchi, T, Fukui, D, Nakano, T, Umeyama, A, Toda, K, Funada, R, Ishikawa, M, Kawamura, R, Okada, K, Hatamochi, A, Kosho, T & Kurabayashi, M 2018, 'Peripartum iliac arterial aneurysm and rupture in a patient with vascular ehlers-danlos syndrome diagnosed by next-generation sequencing', International heart journal, vol. 59, no. 5, pp. 1180-1185. https://doi.org/10.1536/ihj.17-451

Peripartum iliac arterial aneurysm and rupture in a patient with vascular ehlers-danlos syndrome diagnosed by next-generation sequencing. / Koitabashi, Norimichi; Yamaguchi, Tomomi; Fukui, Daisuke; Nakano, Takahide; Umeyama, Atsushi; Toda, Kazuyoshi; Funada, Ryuichi; Ishikawa, Masumi; Kawamura, Rie; Okada, Kenji; Hatamochi, Atsushi; Kosho, Tomoki; Kurabayashi, Masahiko.

In: International heart journal, Vol. 59, No. 5, 01.01.2018, p. 1180-1185.

Research output: Contribution to journalArticle

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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

PY - 2018/1/1

Y1 - 2018/1/1

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.

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