Identifying genetic factors for pulmonary arterial hypertension in congenital heart defects

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study investigates the genetic predisposition to pulmonary arterial hypertension (PAH) in patients with congenital heart defects, specifically those with atrial septal defects (ASD) or ventricular septal defects (VSD). The researchers aim to identify gene mutations that may contribute to the development of PAH, which often occurs in patients with congenital shunt lesions. By conducting genetic testing, the study seeks to uncover the relationship between specific genetic profiles and the severity of PAH, potentially leading to earlier detection and intervention. The ultimate goal is to improve patient outcomes through targeted prevention and treatment strategies.

Why it matters

Who can join: the full rules

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

Where it's running

• University Hospitals Leuven
  Leuven, Belgium Recruiting

Study contacts

• Principal investigator: Werner Budts, MD, PhD — Universitaire Ziekenhuizen KU Leuven
• Study coordinator: Werner Budts, MD, PhD
• Email: werner.budts@uzleuven.be
• Phone: +32 16 344369

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.