Genetics study in families with congenital heart defects and PAH
Part of Genetic & congenital, Heart & circulation, Lungs & breathing clinical trials.
This study looks at genes that may contribute to pulmonary arterial hypertension (PAH) in people born with certain heart “shunts” (holes between heart chambers). If you have (or your family has) ASD or VSD and PAH confirmed by a heart pressure test, you may be invited to share genetic and health information to help researchers understand risk and better target future care.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have been diagnosed with an atrial septal defect (ASD) or a ventricular septal defect (VSD), with or without prior repair
- You have PAH confirmed by a right-heart catheterization (a specialized pressure test) with specific pressure and blood-vessel resistance values
- Your heart-lung pressure pattern must meet all the study’s criteria (mean lung artery pressure ≥ 25 mmHg, wedge pressure ≤ 15 mmHg, and resistance > 3 Wood units)
- If possible, you’re from a family where at least three people have ASD or VSD (helps the study)
- You likely should not have other types of congenital heart disease beyond ASD/VSD
- You should not have chronic lung disease or have very reduced lung capacity (less than 80% of expected), and you should not have a past pulmonary embolism
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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