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

NCT02691689 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 21

Last updated 2026-04-29

No results posted yet for this study

Summary

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

Interventions

OTHER

Genetic testing

Genetic testing by DNA sequencing on blood samples after DNA extraction

Sponsors & Collaborators

  • Universitaire Ziekenhuizen KU Leuven

    lead OTHER

Principal Investigators

  • Werner Budts, MD, PhD · Universitaire Ziekenhuizen KU Leuven

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-11-30
Primary Completion
2027-02-28
Completion
2027-02-28

Countries

  • Belgium

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02691689 on ClinicalTrials.gov