Actively Recruiting
Genes Associated With Development of Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions
Led by Universitaire Ziekenhuizen KU Leuven · Updated on 2026-04-29
21
Participants Needed
1
Research Sites
587 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Pulmonary arterial hypertension (PAH) in patients with congenital heart disease (CHD) is associated with considerable morbidity and even mortality. Next to environmental risk factors, the investigators believe that there is an important role of genetic predisposition to develop PAH in CHD. There often is a discrepancy between the severity of PAH and the CHD, where it is useful to screen for PAH gene mutations. The investigators hypothesize that the genotype is partly responsible for the phenotypic variability in patients with congenital shunt lesions, where some develop PAH and others do not. If a genetic predisposition for PAH in CHD could be identified, then genetic screening could be a useful additional tool for early detection of patients at risk of pulmonary vascular disease and PAH development, with new opportunities for prevention or early treatment.
CONDITIONS
Official Title
Genes Associated With Development of Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Previous diagnosis of secundum atrial septal defect (ASD) or ventricular septal defect (VSD), with or without repair
- Development of pulmonary arterial hypertension (PAH) defined as mean pulmonary artery pressure 65 mmHg by right heart catheterization, with pulmonary wedge pressure 64 15 mmHg and pulmonary vascular resistance > 3 Wood units
- Preferably, families with congenital shunt lesions including at least three family members affected with ASD or VSD
You will not qualify if you...
- Other congenital heart disease
- Mental retardation
- Dysmorphic characteristics
- Chronic lung disease or total lung capacity < 80% of predicted value
- History of pulmonary embolism
AI-Screening
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Trial Site Locations
Total: 1 location
1
University Hospitals Leuven
Leuven, Belgium, 3000
Actively Recruiting
Research Team
W
Werner Budts, MD, PhD
CONTACT
C
Charlien Gabriels, MD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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