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

Launched by UNIVERSITAIRE ZIEKENHUIZEN KU LEUVEN · Feb 20, 2016

Keywords

ClinConnect Summary

This clinical trial is exploring the role of genetics in the development of pulmonary arterial hypertension (PAH) in patients with certain heart defects, specifically secundum atrial septal defects (ASD) or ventricular septal defects (VSD). PAH is a serious condition that affects the blood vessels in the lungs, leading to increased pressure and can cause significant health problems. The researchers believe that some patients may have a genetic predisposition that makes them more likely to develop PAH, even if their heart defects are not severe. By identifying these genetic factors, they hope to find ways to detect PAH earlier and possibly prevent or treat it more effectively.

To participate in the trial, individuals should have a previous diagnosis of ASD or VSD, with or without surgery, and have developed PAH as defined by specific medical measurements. Families with multiple members affected by these heart defects are especially encouraged to join. Participants can expect to undergo genetic testing and various health assessments during the study. This research could be important for improving care for patients with congenital heart defects by allowing for earlier detection and intervention for those at risk of developing PAH.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Previous diagnosis of secundum atrial septal defect (ASD) or ventricular septal defect (VSD), with or without repair
• • Development of PAH, defined as mean PAP ≥ 25 mmHg by right heart catheterization, in combination with a pulmonary wedge pressure of ≤ 15 mmHg and a PVR (pulmonary vascular resistance) of \> 3 Wood units
• • Preferably, families with congenital shunt lesions (at least three family members affected with ASD or VSD) will be considered for inclusion
• Exclusion Criteria:
• • Other congenital heart disease
• • Mental retardation
• • Dysmorphic characteristics
• • Chronic lung disease or total lung capacity \< 80% of predicted value
• • History of pulmonary embolism