Genetic Testing for Pulmonary Arterial Hypertension (PAH) and PVOD

Genetic testing checks your DNA for changes (called “variants”) that may increase the chance of developing PAH or PVOD. This is usually done with a gene panel, which looks at several genes known to affect these conditions.

You do not need a family history to consider testing. Many people with gene changes have no relatives with PAH.

What Is Genetic Testing?

Genetic testing checks your DNA for changes (called “variants”) that may increase the chance of developing PAH or PVOD. This is usually done with a gene panel, which looks at several genes known to affect these conditions.

You do not need a family history to consider testing. Many people with gene changes have no relatives with PAH.

Why Genetic Testing Matters

Genetic testing can help:

Explain why PAH developed
Identify heritable PAH or PVOD
Give helpful information for family members
Guide long-term follow-up care
Support decisions about treatment and monitoring

Important: A positive test does not mean a person will definitely develop PAH. It only means their risk is higher.

Common Gene Changes Linked to PAH

The most common gene linked to heritable PAH is BMPR2.

BMPR2 (most common)

The gene most often linked with heritable PAH
Found in about 70–80% of families with PAH
Increases the chance of developing PAH during life, but many people with BMPR2 changes never get the disease

Other PAH-related genes

These gene changes are less common but still known to increase PAH risk:

ACVRL1 — linked to PAH and a condition called HHT
ENG — can cause HHT and sometimes PAH
TBX4 — often linked to PAH in children, but also seen in adults
SMAD9 — part of the same pathway as BMPR2
KCNK3 — rare, affects how cells handle electrical signals
SOX17 — linked to PAH, sometimes seen with congenital heart disease

Having one of these genes does not guarantee PAH will develop. It only increases risk.

Gene Changes Linked to PVOD

PVOD is a rare type of pulmonary hypertension that affects the tiny veins in the lungs. It can look very similar to PAH on routine tests, so genetic testing can help make the correct diagnosis.

EIF2AK4 (most common in PVOD)

The main gene linked to PVOD
People with two harmful EIF2AK4 variants (one from each parent) have a high chance of developing PVOD
Helps PH specialists know when PAH medicines may need to be used with caution, since some may worsen symptoms in PVOD

Family members may also consider testing if this gene change is found.

Who Might Consider Genetic Testing?

Your care team may recommend genetic testing if:

You have PAH with no clear cause
Someone in your family has PAH or PVOD
You were diagnosed at a young age
You are planning a family
Your PH specialist wants more information to guide your care

Genetic counseling is usually recommended to help you understand what the results mean.

How Genetic Testing Works

Sample collection — A blood draw or saliva sample is sent to a specialized lab.
Gene panel testing — The lab looks for changes in genes linked to PAH or PVOD.
Results explained — Results may show:
- A known harmful gene change
- A change of uncertain meaning
- No known gene changes

Even if no gene change is found, you may still have PAH, and your treatment continues based on your medical tests.

What Genetic Testing Can Tell You — and What It Can’t

What it can tell you:

Whether you carry a gene linked to PAH or PVOD
Whether family members might want to get tested
Whether you may need regular follow-up even before symptoms appear

What it can’t tell you:

Whether you will definitely get PAH
When PAH might start
How severe the condition might become

This is why genetic counseling is helpful — to explain results in a clear, supportive way.

After Testing

If a gene change is found, your PH or PVOD specialist will use this information to:

Guide your care
Recommend follow-up testing
Help you understand your family’s risk
Plan long-term monitoring

If no gene change is found, your care plan continues based on your symptoms and other medical tests. Genetics is just one piece of the full picture.

Learn More About PAH Diagnosis