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

RecruitingNAAges 18 Years - anyAllUniversitaire Ziekenhuizen KU Leuven
NCT02691689 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
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
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What it tests

  • Genetic testing
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Where

1 site
University Hospitals Leuven
Leuven, Belgium
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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