Makito Sakurai, Yohei Yamaguchi, Kei Takasawa, Susumu Hosokawa, Taku Ishii
Institute of Science Tokyo. Japanese Red Cross Musashino Hospital.
Japan
European Heart Journal Case Reports
Eur Heart J Case Rep 2025; 9:
DOI: 10.1093/ehjcr/ytaf386
Abstract
Background: Pulmonary arterial hypertension (PAH) is a severe and life-threatening disease. Genetic factors, inflammation and immune system play important roles in their pathogenesis. However, their precise roles are still not fully understood.
Case summary: A woman was diagnosed with PAH at age 12 due to dyspnoea and syncope on exertion. Genetic testing at that time revealed a heterozygous BMP9 mutations (c. 451C>T; p. Arg151Ter). Despite receiving combination therapy with macitentan, riociguat, and intravenous epoprostenol, she continued to have severe pulmonary hypertension with suprasystemic pressure [mean pulmonary artery pressure (PAP) = 65 mmHg] for 4 years following treatment initiation. At the age of 17, she was admitted to the hospital because of an airway infection (AI). Cardiac catheterization performed 3 months after an AI revealed a considerable improvement in the mean PAP, which had decreased to 24 mmHg. This improvement was sustained even 1 year after the AI.
Discussion: A patient with severe, treatment-resistant pulmonary hypertension exhibiting a dramatic improvement in pulmonary pressure following an AI is exceedingly rare. The present case may provide new insights into the pathophysiology of PAH.
Category
Class I. Heritable Pulmonary Hypertension
Medical Therapy. Efficacy or Lack of Efficacy
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes