Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension

Congenital portosystemic shunt (CPSS) are rare vascular malformations causing blood from the intestines to bypass the liver and directly flow into body's general circulation. Such liver bypass can cause several health problems, one of the most severe being portopulmonary hypertension (PoPH). The goal of this study is to identify pathogenic and potentially pathogenic genetic variants in patients who have both CPSS and PoPH. Future research will assess the contribution of these genetic variants to the development of PoPH. The long-term goal is to use genetic information to identify patients with congenital portosystemic shunts (CPSS) or chronic liver disease who are at risk of developing PoPH to offer anticipatory management. Children and adult patients with both CPSS and PoPH, as well as their close relatives (patient's parents and siblings) can take part in the study. Genetic variations within each family will be studied.

NCT Number	NCT07314814
Lead Sponsor	Prof. Valérie Mc Lin
Conditions	Portopulmonary Hypertension, Pulmonary Arterial Hypertension (PAH), Congenital Portosystemic Shunt
Enrollment	120 participants
Start Date	2026-02-01
Primary Completion	2029-08-31 (estimated)
Study Completion	2030-01-31 (estimated)
Updated on ClinicalTrials.gov	2026-01-20