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What gene is associated with pulmonary hypertension?
The BMPR2 gene (bone morphogenetic protein receptor 2) is the most common gene linked to pulmonary hypertension. About 80% of people with familial or heritable PAH have a mutation in this gene.
BMPR2 mutations can also appear in some people with idiopathic PAH (no known cause) and those with congenital heart disease. However, having this gene mutation doesn't guarantee you'll develop PAH - surprisingly, about 80% of people with the mutated gene never develop the condition.
Other less common genes associated with PAH include:
- EIF2AK4
- ACVRL1
- CAV1
- ENG
- TBX4 (mainly in children, often with other developmental issues)
November 15, 2025
Where can you get a genetic marker test for pulmonary hypertension?
If your doctor recommends genetic testing for pulmonary hypertension, they'll typically send a blood sample to an approved laboratory that specializes in genetic analysis. Your doctor will handle the referral and coordinate the testing process.
Before Show Full Answer
Where can you get a genetic marker test for pulmonary hypertension?
If your doctor recommends genetic testing for pulmonary hypertension, they'll typically send a blood sample to an approved laboratory that specializes in genetic analysis. Your doctor will handle the referral and coordinate the testing process.
Before getting tested, it's strongly recommended to meet with a genetic counselor. They can help you understand:
* What the testing process involves
* What the results might mean for you and your family
* Whether genetic testing is the right choice for your situation
Your doctor can refer you to a genetic counselor and explain both the risks and benefits of testing. This is especially important if you have a family history of PAH or if you've been diagnosed with PAH and want to understand if there's a hereditary component.
A myPHteam member shared: "I found out I have hereditary PAH, and my twin daughters are carriers of the genes. They will have yearly echocardiograms to catch a change early if it ever occurs."
If you're interested in genetic testing, start by discussing it with your pulmonary hypertension specialist or primary care doctor. They'll guide you through the next steps and connect you with the right resources.
November 15, 2025