Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by Next-Generation Sequencing.

Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by Next-Generation Sequencing. Int Heart J. 2018 Aug 29;: Authors: 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 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...
Source: International Heart Journal - Category: Cardiology Tags: Int Heart J Source Type: research