Kartagener Syndrome

Kartagener syndrome is a condition you’re born with, where the cilia in your lungs don’t work properly. Cilia are hairlike structures that help clear mucus and germs.

Kartagener syndrome is a form of primary ciliary dyskinesia (PCD). Dyskinesia (pronounced “dis-kin-EE-shuh”) means the cilia don’t move as they should. People with PCD can also have:

• Differences in the position of their organs, including their heart, intestines, liver and spleen
• Sperm that don’t move around much or at all, which can cause infertility

Additionally, people with Kartagener syndrome have:

• Bronchiectasis: Damage to your airways that causes widening and pockets
• Frequent sinus infections: Because the cilia are unable to clear bacteria
• Situs inversus: Organs that are a mirror image of what they normally would be (on the opposite side of your body and reversed)

PCD is often diagnosed at birth or during childhood.

Symptoms of Kartagener syndrome

Symptoms include:

• Difficulty breathing at birth
• Chronic cough and/or runny nose
• Frequent lung, ear and sinus infections

Kartagener syndrome causes

A gene change (variant) that you’re born with causes Kartagener syndrome. The genes that cause PCD affect how your organs develop. Changes in many genes can cause PCD. You usually inherit the changes from your biological parents. They can only pass on the genetic change if both have the gene variant.

Your parents won’t necessarily know they carry a gene that causes PCD. They might not have symptoms themselves. In rare cases, neither of your biological parents has a PCD gene. In this case, a new change happens in your genes during fetal development.

Complications

Complications of Kartagener syndrome include:

• Acute respiratory distress syndrome (ARDS)
• Hearing loss
• Infertility in males
• Frequent lung infections (pneumonia)
• Speech delay

How doctors diagnose Kartagener syndrome

A healthcare provider will diagnose your child with Kartagener syndrome if they have primary ciliary dyskinesia and their organs are reversed. Imaging tests, like X-rays, ultrasounds or CT scans, can show where their organs are in their body.

Tests

There isn’t one single test that diagnoses PCD. And it can take time to get an accurate diagnosis. Tests that help in diagnosis include:

• Ear, nose and throat exams: An otolaryngologist (ENT) uses special tools to examine your child’s ears, nose and throat. They can also test their hearing.
• Pulmonary function tests: These test how well your child’s lungs are working.
• Genetic testing: Using a blood sample or cheek swab, a lab looks for gene changes that cause PCD.
• Nasal nitric oxide testing: This is a screening breathing test with a small device temporarily placed in your child’s nose. It measures nitric oxide levels.
• Electron microscopy: A provider brushes some cells from the inside of your child’s nose and looks at them under a microscope. They can look at how well the cilia are working and if there are issues in their structure.

How is Kartagener syndrome treated?

There’s no cure for Kartagener syndrome. But strategies for managing the condition include:

• Airway clearance techniques, like chest physiotherapy
• Antibiotics to treat or prevent bacterial infections
• Getting recommended vaccinations
• Oxygen therapy

In severe cases, some people need a lung transplant. This is rare.

When should I see my healthcare provider?

See your child’s healthcare provider if they have a chronic cough or runny nose or if they get sick frequently. They can let you know next steps.

What can I expect if my child has Kartagener syndrome?

The condition affects people in different ways. Some kids need to be in the hospital for treatment frequently or for a long time. Others don’t. Ask your child’s care team what you can expect.

Situs inversus usually doesn’t cause additional health issues. But it’s important to let providers know that your child has the condition.