Genetic Testing for Lung Blood Pressure Risk in Adults With Congenital Heart Defects
Looks for genes linked to pulmonary arterial hypertension in adults with heart shunt defects.
Plain-language title generated from the registry record
Registry title: Genes Associated With Development of Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions
Key facts
- Where
- Leuven, BelgiumSee the site
Where in Belgium
- University Hospitals LeuvenLeuven, BelgiumTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Universitaire Ziekenhuizen KU Leuven
- Trial code
- NCT02691689
- Record updated
- 29 April 2026
- Original description
Pulmonary arterial hypertension (PAH) in patients with congenital heart disease (CHD) is associated with considerable morbidity and even mortality.Read full original descriptionShow less
Prospective, Monocentric Pilot Study for the Identification of Known or Novel Genes Associated With Development of Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions
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.
Inclusion: 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: Other congenital heart disease; Chronic lung disease or total lung capacity < 80% of predicted value; History of pulmonary embolism; Mental retardation; Dysmorphic characteristics.