RecruitingNot ApplicableNCT02691689

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

Prospective, Monocentric Pilot Study for the Identification of Known or Novel Genes Associated With Development of Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions

Sponsor

Universitaire Ziekenhuizen KU Leuven

Enrollment

21 participants

Start Date

Nov 1, 2015

Study Type

INTERVENTIONAL

Conditions

Genetic Testing Pulmonary Arterial Hypertension Heart Defects, Congenital

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.

Eligibility

Min Age: 18 Years

Plain Language Summary

Simplified for easier understanding

This study is looking for genes that may cause or contribute to pulmonary arterial hypertension (PAH) — a serious condition where the blood pressure in the arteries leading to the lungs is dangerously high, making the heart work much harder — particularly in families where multiple members are affected. **You may be eligible if...** - You have been diagnosed with pulmonary arterial hypertension (PAH) - You have family members who have also been diagnosed with PAH or a related condition - You are willing to provide a blood sample for genetic analysis - You may also be eligible as an unaffected family member for comparison **You may NOT be eligible if...** - You do not have PAH or a related pulmonary vascular condition - You are unwilling to provide genetic samples - Your PAH has a clear non-genetic cause (such as a congenital heart defect or connective tissue disease) Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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