An interventional study of Genetic testing in Heart Defects, Congenital, Pulmonary Arterial Hypertension and Genetic Testing, sponsored by Universitaire Ziekenhuizen KU Leuven. Recruiting at 1 site in Belgium. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-04-29.
Sponsored by Universitaire Ziekenhuizen KU Leuven · Not applicable, Interventional, and Diagnostic
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.
Pulmonary arterial hypertension (PAH) in patients with congenital heart disease (CHD) usually develops secondary to chronic volume overload of the pulmonary circulation following left to right shunt. This overload leads to elevated pulmonary artery pressure (PAP) and later to increased pulmonary vascular resistance. This causes pressure overload in the right heart, and thereby right ventricular and right atrial dysfunction, which may implicate considerable morbidity and even mortality.
Since PAH nowadays is mostly detected when symptoms occur and PAP are elevated, the disease already evolved to an advanced (partially irreversible) stage and treatment is often initiated too late.
Next to environmental risk factors, the investigators believe that there is an important role of genetic predisposition to develop PAH in CHD. In the past, certain genes have been identified that play a role in the development of atrial septal defect (ASD). There are also a lot of genes identified that play a role in PAH. Until now, not many research groups have studied a genetic link between CHD and PAH development. But it becomes more and more clear that 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 mutations in some of these known PAH genes or in other, still unidentified, genes are 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.
1,007 studies on the registry are indexed under Heart Defects, Congenital; 257 are open to participants now.
This study's planned enrollment of 21 is below the median of 60 across 524 interventional studies indexed under Heart Defects, Congenital.
Browse Heart Defects, Congenital studies →Universitaire Ziekenhuizen KU Leuven is the lead sponsor of 928 studies on the registry; 261 are open to participants now.
Of its 5 completed or terminated interventional studies of FDA-regulated products, 0 (0%) have results posted.
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Exclusion Criteria:
Other: Genetic testing
Genetic testing by DNA sequencing on blood samples after DNA extraction
Presence of pathogenic mutations in PAH or ASD genes
* In a first step, known PAH genes (BMPR2, ALK1 and endoglin) will be screened for mutations. * In a second step, known ASD genes will be screened. * If step 1 and 2 remain negative, exome sequencing will be performed.
Time frame: 18 months
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Universitaire Ziekenhuizen KU Leuven