Severe Pulmonary Hypertension in a Teenager with Portal Hypertension and Congenital Heart Defect

All articles of this category (opens in new window) Background: Pulmonary hypertension (PH) in pediatric patients with congenital heart defects and portal hypertension is rare but represents a clinically challenging constellation. The interplay between cardiac malformations, altered hepatic vasculature, and portal hypertension can result in significant morbidity, often requiring invasive hemodynamic assessment and careful balancing of pharmacological interventions. Methods: We report the case of a 14-year-old female with a history of aneurysmatic, multiperforated atrial septum with left-to-right shunt, cavernous transformation of the portal vein with portal hypertension, splenomegaly with hypersplenism, and prior episodes of esophageal variceal bleeding. She was admitted for elective cardiac catheterization (to evaluate pulmonary pressures and vascular reactivity). Due to marked thrombocytopenia, platelet transfusion was administered prior to the procedure. The heart catheterization and angiography were performed without complications. Results: Hemodynamic assessment demonstrated severe pulmonary hypertension with a mean pulmonary arterial pressure of 49 mm Hg, pulmonary vascular resistance index of approximately 6 WU·m 2 , and poor reversibility under oxygen. Liver venography revealed the absence of portal vein connection with hepatic veins/could not demonstrate intrahepatic portal vein branches consistent with portal vein cavernoma, and showed significant rarefaction and a left-sided hepatic vein stenosis. The hepatic venous wedge pressure was elevated at 22 mm Hg. Based on these findings, targeted pulmonary vasodilator therapy was initiated with tadalafil and macitentan, complemented by afterload reduction with lisinopril and spironolactone. The procedure was uneventful, and the patient was discharged in stable condition with close outpatient follow-up arranged. Re-catheterization was recommended within 3 to 6 months. Conclusion: This case highlights the complex interaction of portal hypertension, altered hepatic venous anatomy, and congenital atrial septal defects in the development of severe pediatric pulmonary hypertension. Despite the rarity of this constellation, recognition is crucial as early initiation of combined pulmonary vasodilator and afterload-modulating therapy may help stabilize clinical status. Invasive hemodynamic monitoring remains indispensable for therapeutic decision-making, while longitudinal follow-up will determine the long-term benefit of targeted therapies in this vulnerable cohort. In the future, a Meso-Rex shunt or a liver transplantation may need to be considered. Publication History Article published online: 17 February 2026 © 2026. Thieme. All rights reserved. Georg Thieme Verlag KG Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany