Overview of Kartagener Syndrome
Kartagener syndrome is a rare hereditary disease caused by a
gene defect. The defect is considered to be “autosomal recessive.” This means
that an individual must inherit the gene from both parents in order to be
This condition causes abnormalities of the respiratory tract.
It also causes transposition of the organs. An estimated one in 30,000 people
are born with Kartagener syndrome (Gupta et al., 2012).
It is marked by the presence of two distinct abnormalities: primary ciliary dyskinesia and situs inversus.
What Is Primary Ciliary Dyskinesia?
Primary ciliary dyskinesia (PCD) is abnormality of the
cilia. The cilia are hair-like structures that line the mucous membranes of the
lungs, nose, and sinuses.
Normal cilia move in a wave-like motion. They transport
mucus up and out of the airways through the nose and mouth. This action, called
motility, clears the sinuses and lungs of germs that can cause infection.
PCD results in cilia not moving, moving very little, or moving
in the wrong direction. This causes bacteria and mucus to stay in the
respiratory tract. Here it can breed chronic infection in the upper and lower
Patients with PCD suffer from chronic sinusitis and permanent
changes in the lungs. This is called bronchiectasis.
Chronic sinusitis is persistent infection, with swelling,
and inflammation within hollow air spaces inside the skull. It can lead to recurrent
ear infections called otitis media. This chronic ear infection may be severe
enough to cause permanent tissue damage and deafness.
Bronchiectasis results in inflammation, enlargement, and
scarring of the bronchial tubes due to repeated infections. This condition
causes a chronic cough, fatigue, and shortness of breath.
Bronchiectasis is almost uniformly present in adults with
Kartagener syndrome according to the National Institutes of Health Office of
Rare Diseases Research. It is possible to have only PCD. However, about half of
patients with PCD also have situs inversus. Those who have both are considered
to have Kartagener syndrome (ORDR,
The moveable tails of sperm (flagella) are often also
affected. Abnormality in sperm motility may result in male infertility.
Male infertility is a common sign of Kartagener syndrome present
in men. Women with Kartagener syndrome are often infertile because of cilia
immotility in the lining of the Fallopian tubes.
What Is Situs Inversus?
Situs inversus occurs as the fetus grows in the mother’s womb.
It causes the baby’s vital organs to grow on the opposite side of the body,
forming a mirror image of the normal positioning. The liver may be on the left
side of the body instead of the right, for example.
Situs solitus is the normal position of the organs. Patients
with Kartagener syndrome may have different organ configurations:
- situs inversus totalis (all organs are
transposed in a mirror image of the normal positioning)
- situs inversus thoracalis (only the lungs and
heart are transposed)
- situs inversus abdominalis (only the liver,
stomach, and spleen are transposed)
The heart and other vital organs function normally in
Kartagener syndrome, except for PCD abnormalities.
How Is Kartagener Syndrome Diagnosed?
There are three main symptoms that signal the presence of
Kartagener syndrome (ORDR,
- chronic sinusitis
- bronchiectasis (in adults)
- situs inversus
The syndrome is sometimes diagnosed at birth, when the
newborn has respiratory distress requiring oxygen therapy.
However, it is more often discovered in early childhood with
chronic sinusitis and ear infections, when no other cause can be found.
Chest X-rays and computed tomography (CT) scans may help
diagnose situs inversus, lung overinflation, bronchial wall thickening, and
The doctor may also observe nasal polyps, a reduced sense of
smell, and hearing loss. The fingers and toes are sometimes clubbed. This is believed
to be caused by lack of oxygen to the extremities.
An electron microscope is used to examine tissue specimens
from the nose, trachea, or adenoid. The cilia can be checked for structural
abnormalities, movement, beat frequency, and coordination.
Semen analysis may reveal abnormal motility of sperm or
A breathing test may be helpful in diagnosing PCD in young
patients. This test finds a reduced amount of breathed substances like
saccharine or nitrous oxide passing out through the nose.
How Is Kartagener Syndrome Treated?
There is no cure for a genetic disorder. However, the
complications of Kartagener syndrome can be controlled. Most patients can
expect a normal lifespan.
Long-term, low-dose antibiotics and immunizations can be
used to control chronic respiratory and sinus infections. Inhaled
corticosteroids may ease symptoms of bronchiectasis.
Pulmonary hygiene may help clear mucus. Cardiopulmonary
specialists use brochoscopy and tracheotomy to suction mucus from the airways.
Lung transplant surgery may be necessary in late-stage lung