CASE REPORT article
Front. Pediatr.
Sec. Neonatology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1612410
This article is part of the Research TopicAdvancements in Understanding and Managing Pulmonary Thromboembolism and HypertensionView all 3 articles
Case Report: Shared manifestation, distinct etiologies: severe pulmonary hypertension in both mother and neonate
Provisionally accepted- 1College of Medicine, Qingdao University, Qingdao, Shandong Province, China
- 2Neonatology Department, The Affiliated Hospital of Qingdao University, Qingdao, China
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Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disease. The prevalence of pulmonary arterial hypertension (PAH) in HHT patients is less than 1%. Severe pulmonary hypertension (PH) in pregnant woman due to HHT and reversible pulmonary hypertension in her neonate is even rarer. Methods: Cases of mother and newborn with PH are presented, including their clinical manifestations, diagnosis, and treatment. Additionally, literatures were reviewed to explore the various causes of the disease. Results: The mother was diagnosed with HHT caused by an ACVRL1 gene variant, with her PH occurring as a complication of HHT type 2 (HHT2). The neonate was confirmed to be free of the ACVRL1 gene variant, and her PH resulted from impaired placental perfusion and adverse intrauterine environment secondary to severe maternal PH and anemia. Conclusion: Attention should be paid to the progression of the disease and the comprehensive management strategies during pregnant HHT patient. Moreover, neonates born to HHT-affected mothers require evaluation for both HHT-related PH and reversible PH secondary to adverse intrauterine factors. This report aims to enhance the recognition of familial manifestations of Pulmonary hypertension & hereditary hemorrhagic telangiectasia 2 HHT and raise awareness of the occurrence of postnatal PH in neonates of mothers with HHT, thereby facilitating early detection and timely intervention.
Keywords: pulmonary hypertension, Hereditary hemorrhagic telangiectasia, ACVRL1 gene, Premature neonate, case report
Received: 15 Apr 2025; Accepted: 05 Aug 2025.
Copyright: © 2025 Wang, Yang, Xi, Yin, Ma, Li and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Xianghong Li, Neonatology Department, The Affiliated Hospital of Qingdao University, Qingdao, China
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