Wang Sihan, Yang Ping, Xi Hongmin, Yin Xiangyun, Ma Lili, Li Liangliang, Li Xianghong
College of Medicine, Qingdao University, Qingdao, China.
Neonatology Department, The Affiliated Hospital of Qingdao University, Qingdao, China.
Front Pediatr. 2025 Aug 26;13:1612410. doi: 10.3389/fped.2025.1612410. eCollection 2025.
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.
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.
The mother was diagnosed with HHT caused by an gene variant, with her PH occurring as a complication of HHT type 2 (HHT2). The neonate was confirmed to be free of the gene variant, and her PH resulted from impaired placental perfusion and adverse intrauterine environment secondary to severe maternal PH and anemia.
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 HHT and raise awareness of the occurrence of postnatal PH in neonates of mothers with HHT, thereby facilitating early detection and timely intervention.
遗传性出血性毛细血管扩张症（HHT）是一种罕见的遗传性疾病。HHT患者中肺动脉高压（PAH）的患病率低于1%。因HHT导致的孕妇严重肺动脉高压（PH）以及其新生儿的可逆性肺动脉高压更为罕见。
介绍了患有PH的母亲和新生儿的病例，包括他们的临床表现、诊断和治疗。此外，回顾了文献以探讨该疾病的各种病因。
母亲被诊断为由一种基因变异引起的HHT，其PH作为2型HHT（HHT2）的并发症出现。新生儿被证实没有该基因变异，其PH是由于严重母体PH和贫血导致的胎盘灌注受损及不良宫内环境所致。
应关注HHT孕妇疾病的进展及综合管理策略。此外，HHT母亲所生的新生儿需要评估与HHT相关的PH以及因不良宫内因素导致的可逆性PH。本报告旨在提高对HHT家族表现的认识，并提高对HHT母亲所生新生儿产后PH发生的认识，从而促进早期发现和及时干预。
