Genetic Studies in Pulmonary Vein Stenosis
What is the goal of the study?
1. Identify PIK3CA and other gene mutations in tissues and blood/plasma samples from patients with pulmonary vein stenosis (PVS), using highly sensitive sequencing methods (next-generation sequencing and digital droplet PCR) 2. Sequence a broad panel of growth-promoting genes in the PI3K-MAPK pathway using tissues and blood/plasma samples from patients with PVS 3. Determine the ideal sample (tissue, central, or peripheral blood; genomic DNA, or cell-free DNA) for detecting PIK3CA or other mutations in patients with PVS and other related developmental cardiovascular lesions
Who can participate in the study?
Please contact the study team listed below to learn more.