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

NCT02691689 | Recruiting

• 1 other identifier: S57936
• Study Type: interventional
• Target: 21
• Locations: 1 country
• Sites: 1

Brief 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

Pulmonary Arterial Hypertension; Genetic Testing; Heart Defects, Congenital

Outcome Measures

Primary Outcomes (1)

• 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.

  18 months

Study Arms (1)

Patients with ASD or VSD and PAH

OTHER

Other: Genetic testing

Interventions

Genetic testing OTHER

Genetic testing by DNA sequencing on blood samples after DNA extraction

Patients with ASD or VSD and PAH

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• Other congenital heart disease
• Mental retardation
• Dysmorphic characteristics
• Chronic lung disease or total lung capacity \< 80% of predicted value
• History of pulmonary embolism

Sponsors & Collaborators

• Universitaire Ziekenhuizen KU Leuven: lead

Study Sites (1)

University Hospitals Leuven

Leuven, 3000, Belgium

RECRUITING

MeSH Terms

Conditions

Heart Defects, Congenital; Pulmonary Arterial Hypertension

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hypertension, Pulmonary; Lung Diseases; Respiratory Tract Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Study Officials

• Werner Budts, MD, PhD

  Universitaire Ziekenhuizen KU Leuven

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Werner Budts, MD, PhD

CONTACT

+32 16 344369; werner.budts@uzleuven.be

Charlien Gabriels, MD

CONTACT

+32 16 341486; charlien.gabriels@uzleuven.be

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Werner Budts, MD, PhD

Study Record Dates

• First Submitted: February 17, 2016
• First Posted: February 25, 2016
• Study Start: November 1, 2015
• Primary Completion (Estimated): February 1, 2027
• Study Completion (Estimated): February 1, 2027
• Last Updated: April 29, 2026

Record last verified: 2026-04

Locations

BE (1)