A Twin Pregnancy With Undiagnosed Hereditary Hemorrhagic Telangiectasia With Severe Hypoxia

Abstract

During pregnancies with hereditary hemorrhagic telangiectasia (HHT), rare severe complications could be fatal. This study presents a Chinese immigrant with twin gestation with asymptomatic hypoxia. The pregnancy was complicated with fetal growth discordance, placental insufficiency, and preterm labor, which she delivered at 34 weeks via a primary cesarean section. The series of images showed multifocal bilateral pulmonary arteriovenous malformations and evidence of pulmonary hypertension. Postoperatively, the patient required high-flow oxygen and nitrogen oxide supply due to severe hypoxia. HHT was diagnosed with positive genetic testing of the ENG variant. She received pulmonary artery embolization and the hypoxia improved. The further workup of brain and liver arteriovenous malformations was negative. This study reviewed literature about HHT and its effects on pregnancies. The disease onset, the diagnostic process, and the management experience might provide clinical value for care providers and for future reference.

J Clin Gynecol Obstet. 2024;13(2):48-50
doi: https://doi.org/10.14740/jcgo966