Kartagener Syndrome: Definition, Causes, Symptoms, Diagnosis, Treatment and Prognosis

It is a type of primary ciliary dyskinesia that is characterized by the inverted position of the internal organs.

The signs and symptoms that the syndrome presents vary, it may be caused by changes (mutations) in some recessive genes.

There is no cure for Kartagener syndrome and the treatment will vary according to the signs and symptoms that occur in each individual.


Kartagener syndrome can be caused by changes (mutations) in many genes.

These genes have the ability to encode proteins that are paramount to the structures and functions of cilia.

Cilia are tiny structures that are located in various parts of the body, such as in the lining of the airways, in the reproductive system and other organs.

The movements of the cilia are coordinated wave motions, which are important for the normal functioning of some organs and tissues of the body and ensure the proper placement of the organs during embryonic development.

Mutations that originate in these genes cause immobility of the cilia or abnormal movements, which leads to the presentation of the signs and symptoms characteristic of Kartagener syndrome.

Researchers have identified several different genes that are linked to the Kartagener syndrome, however, the genetic origin is unknown in some cases.

Kartagener syndrome is inherited in an autosomal recessive form.

So to present the syndrome, the individual must have a mutation in both copies of the gene.

The parents of an affected individual usually carry a mutated copy of the gene, each, and are called carriers.

The carriers usually show no signs or symptoms of Kartagener Syndrome.

In the laws of Mendelian inheritance, it is expected that when two carriers of an autosomal recessive disorder have offspring.

Children have a 25% chance of suffering from the condition, a 50% chance of being carriers as each of the parents, and a 25% chance of not presenting the condition and of not being carriers.


The Kartagener syndrome is characterized by organs such as the heart, liver, spleen and intestine are located abnormally in the human body.

This condition usually does not cause any health problems.

However, signs and symptoms are likely to occur such as:

  • Respiratory difficulties in neonates.
  • Common respiratory infections that can cause severe lung damage.
  • Chronic nasal congestion
  • Usual sinus infections.
  • Periodic infections in the middle ear, particularly during childhood.
  • Loss of auditory sense.
  • Hydrocephalus
  • Sterility problems


Kartagener syndrome is presumed based on the occurrence of characteristic signs and symptoms.

A differential diagnosis can be confirmed by examining a tissue sample (biopsy) of an organ of the body that has cilia, such as sinus cavities or airways.

These anomalies in the structures of the cilia, are observed in people who are affected by the Kartagener syndrome.

If the genetic change that causes the disease (mutation) is known, a genetic test record can be made to confirm the diagnosis.

The Registry of genetic tests, provides information on genetic tests for this condition.


Currently, there is no cure for Kartagener syndrome.

The treatment will vary depending on the signs and symptoms that each person presents.

A treatment of airway clearance, similar to that used in cystic fibrosis, can dilute dense mucus to make it easier to remove.

Antibiotics may be prescribed for the treatment of respiratory infections, sinus infections, and middle ear infections.

These can be administered for longer periods in people who have chronic or very frequent infections.

Surgery may be suggested to insert the auditory ventilation tubes in children who have chronic ear infections, which are resistant to antibiotics.

In people with severe lung disease, lung transplantation may be an option.


The long-term life prospects for people suffering from Kartagener Syndrome, will vary and depend on an accurate diagnosis and timely treatment.

Recurrent childhood infections can weaken the body.

On the other hand, with proper treatment, the progression of lung disease and other complications such as hearing loss can be stopped.