5′UTR Repeat Polymorphisms of the BMPR2 gene in Children with Pulmonary Hypertension associated with Congenital Heart Disease

In our cohort, there was no BMPR2 mutation in children with aPH/CHD while nine out of 30 of them have 5′UTR repeat polymorphisms. Our data suggests the occurrence of GGC repeat ≥13 at the 5′UTR region may have some protective effect towards pulmonary vasculopathy in children who have been exposed to high pulmonary blood flow due to CHD.