Heterozygous mutations in the BMPR2 gene

Heterozygous mutations in the BMPR2 gene occur when one copy of this gene is altered while the other remains normal. BMPR2 is important for regulating cell growth and function in the blood vessels of the lungs. When mutated, the gene's ability to control these processes is weakened, which can lead to abnormal blood vessel growth and increased pressure in the lungs—a condition known as pulmonary arterial hypertension (PAH). Having just one mutated copy (heterozygosity) increases the risk of developing PAH but doesn't guarantee it. This genetic change can be inherited or occur spontaneously.