Study to Identify Genes Linked to Pulmonary Arterial Hypertension in Adults With Congenital Heart Defects

What this Trial Is About

This research aims to explore the genetic factors linked to pulmonary arterial hypertension PAH in patients with congenital heart disease CHD, particularly those with congenital shunt lesions such as atrial septal defect ASD or ventricular septal defect VSD. PAH in these patients arises due to chronic volume overload in the lungs, leading to increased pressure and resistance in pulmonary arteries. The study investigates how genetic predisposition might explain why some patients develop PAH while others do not, with the goal of improving early detection and prevention strategies. Participants will undergo genetic testing involving DNA sequencing from blood samples to identify known or new gene mutations associated with PAH or ASD. The study is prospective and conducted at a single center, focusing on patients diagnosed with ASD or VSD who have developed PAH. Preferably, families with multiple affected members will be included to better understand hereditary patterns. During the study, researchers will assess the presence of pathogenic mutations in PAH or ASD genes over an 18-month period. Participants pulmonary artery pressures and vascular resistance will be evaluated through right heart catheterization to confirm PAH. The study involves monitoring genetic markers and clinical measurements to better understand the link between genes and disease development, aiming to provide insights that could lead to earlier diagnosis and intervention. Total participation duration varies but includes comprehensive genetic and clinical assessments.

Genes Associated With Development of Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions