Recruiting

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

ClinicalTrials.gov IDNCT02691689

PhaseNA

Enrollment21

SponsorUniversitaire Ziekenhuizen KU Leuven

Age18 Years and older

SexALL

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Conditions studied

Heart Defects, Congenital, Pulmonary Arterial Hypertension, Genetic Testing

About this study

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.

Interventions

Other: Genetic testing — Genetic testing by DNA sequencing on blood samples after DNA extraction

Primary outcomes

Presence of pathogenic mutations in PAH or ASD genes (18 months)

Eligibility information

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

Study locations

University Hospitals Leuven, Leuven, 3000 Belgium

Before you participate: Varda Clinical is an independent discovery tool, not the study sponsor or a medical provider. Eligibility can only be determined by the official study team. Discuss potential risks and benefits with a qualified healthcare professional.

Source: ClinicalTrials.gov. Record last refreshed by Varda Clinical: 2026-10-15.