Heritable Pulmonary Arterial Hypertension

There are different types of pulmonary arterial hypertension (PAH). The heart must work harder to push blood through these compromised arteries. Over time, the heart may lose its ability to pump enough blood through the lungs to meet the body’s needs. Heritable pulmonary arterial hypertension (HPAH) is PAH that is linked to genetics.

What Causes Heritable Pulmonary Hypertension?

Heritable PAH (HPAH) is a form of PAH occurring due to mutations in genes that predispose a person to PAH, or PAH occurring in two or more family members, even when a genetic abnormality is not identified.

Genetic counseling can help assess a family’s risk for developing certain genetic health conditions, like pulmonary hypertension.

Diagnosing Pediatric HPAH

The multidisciplinary pulmonary hypertension program at Riley at IU Health will work together to diagnose your child’s condition. They begin with a thorough initial evaluation that may include:

Blood tests: These may be used to rule out certain diseases or to screen for a condition that may cause PAH secondarily.
Echocardiogram: An echocardiogram captures a moving image of the child’s heart as it works. The doctor can use this to locate defects such as narrow or leaking valves, holes in the heart walls, fluid around the heart, or other issues.
Electrocardiogram (EKG): In this simple, painless test, a technician attaches electrodes to the child’s skin. A machine reads the heart’s electrical activity and can detect problems with the heartbeat.
Cardiac catheterization: A small, flexible tube is threaded through a vein in the arm, upper thigh, or neck. Special dye is injected to allow the doctor to see how the blood flows through the heart and blood vessels. This test can also measure pressure and oxygen levels inside the heart and surrounding blood vessels to determine if there is a problem.
Sleep studies: During a sleep study, clinicians will monitor your child’s breathing, brain activity and vital signs. The results may help determine whether a heart or lung condition is interfering with their sleep.
Chest x-ray: X-rays can show whether the heart is enlarged or if there may be a lung problem.
Pulmonary function testing: This may include a single test or a series of tests, such as spirometry, lung volumes, diffusion testing, respiratory muscle strength, or treadmill testing.
Six-minute walk: In children old enough to walk, this simple test can tell doctors how well oxygen is moving through their blood. The child will walk at a normal pace for six minutes wearing a pulse oximeter.
Ventilation/perfusion scan (V/Q): This diagnostic tool tests for blood clots in the lungs by looking at how air and blood flow to the lungs. The doctor will review the resulting images to evaluate the health of the lungs.
Abdominal/liver ultrasound: Your child's doctor may perform an abdominal ultrasound to view the liver and surrounding ducts.
Genetic testing: A cardiovascular genetic counselor will obtain a detailed family history. They may collect a sample for genetic testing, provide education about the diagnosis, and make suggestions for future medical care of your child. They may also discuss health risks and recommendations for other family members.

Treatments

Potential Treatments for HPAH

Although there is currently no cure for pulmonary arterial hypertension, there are treatment options. You and your physician will discuss treatment options that are right for your child: oral, inhaled, subcutaneous (under the skin), and intravenous (into a vein).

Oxygen therapy: lower oxygen saturations may worsen PAH. Your physician may prescribe supplemental or continuous oxygen use via a nasal cannula.
Drug therapies: Various different types of medication are available, depending on the child’s individual needs. These can be used to open or relax the blood vessels in the lungs so that blood can flow more freely.
Inhaled treprostinil: This medication helps open the blood vessels to ease the symptoms of PAH. This medication is delivered through a special nebulizer four times a day.
Subcutaneous or intravenous treprostinil: Treprostinil can also be administered as a continuous infusion drug. It can be delivered through a portable pump, either under the skin or into a vein.

Throughout treatment, the child will need to see specialists regularly to monitor progress using such tools as echocardiograms and pulmonary function testing. Children with PAH typically need to limit exertion and adhere closely to treatment regimens. Survival rates for pediatric pulmonary hypertension have increased significantly in recent years. Complications can arise, however, so it is important to monitor your child’s health carefully and stay in close contact with their care team.

Key Points to Remember

A thorough medical evaluation will be performed to diagnose HPAH. There is no cure for HPAH, but treatment options are available to help manage the symptoms of this disease.

Your pulmonary hypertension team will work closely with you, your child, and your family throughout the diagnosis and treatment process.

Support Services & Resources

Visit the links below to learn more about HPAH and find support services

Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.

Learn More About Riley Support Services

Pulmonary Hypertension Association

The Pulmonary Hypertension Association provides information related to diagnosis and treatment, as well as patient resources and support.

Locations

In addition to our primary hospital location at the Academic Health Center in Indianapolis, IN, we have convenient locations to better serve our communities throughout the state.