Pulmonary hypertension exacerbated by hereditary hemorrhagic telangiectasia combined with pulmonary arteriovenous fistula and pregnancy status: A case report

Abstract

Background: Hereditary hemorrhagic telangiectasia (HHT) is an uncommon autosomal dominant condition. The combination of pregnancy and HHT can exacerbate pulmonary hypertension (PH) and, in severe cases, lead to fatality. Case presentation: The case we presented is a 28-year-old multiparous woman. She developed chest tightness and dyspnea in the second trimester of pregnancy, which was not taken seriously at that time, and the symptoms worsened postpartum. Echocardiography showed elevated pulmonary artery pressure (PAP) and the computerized tomographic pulmonary angiogram revealed a significant pulmonary arteriovenous malformation. The patient's condition continued to deteriorate despite treatment to reduce pulmonary hypertension. We reviewed and updated the history of omission, recurrent epistaxis during pregnancy, and similar symptoms running in her family. Combined with the whole exon genetic testing report revealing the ACVRL1 gene mutation at chr12:52308295, the diagnosis of HHT was established. Four months later, a transcatheter closure of the pulmonary arteriovenous fistula was performed, with satisfying outcomes presenting a decrease of more than 15 mmHg in the pulmonary artery pressure. As of right now, the patient's status is stable during the outpatient follow-up. Conclusions: HHT is a rare condition that typically occurs alongside abnormal communication between pulmonary veins and arteries, leading to a high-flow state in the pulmonary circulation. A pulmonary hypertension crisis can also be triggered by the patient's pregnancy, which further increases blood volume. By reducinhttps://www.ecdc.europa.eu/sites/default/files/documents/Methods-for-the%20detection-and-characterisation-of-SARS-CoV-2-variants-first-update-WHO-20-Dec-2021.pdfg pulmonary vascular flow, catheter closure of the pulmonary arteriovenous fistula decreases pulmonary arterial pressure.

Keywords

• Hereditary hemorrhagic telangiectasia
• Pulmonary hypertension
• Pulmonary arteriovenous malformation