Kartagener syndrome is a clinical triad of
chronic bronchorrhea with bronchiectasis, chronic sinusitis, and situs
inversus. It can be regarded as a subgroup of primary ciliary dyskinesia
(male sterility, bronchiectasis, sinusitis) because the clinical
consequences are the same. Clinical signs appear soon after birth or early
in childhood. Chronic rhinitis with nasal polyposis (approximately 30% of
patients), agenesis of the frontal sinuses, and repeated otitis media are
common. Conductive hearing loss may result. Anosmia is a frequent finding.
Repeated episodes of atelectasis and pneumonia occur. Bronchiectasis
subsequently develops during childhood and adolescence and affects primarily
the dependent parts of the lung. In contrast, bronchiectasis from cystic
fibrosis tends to affect primarily the upper lobes of the lungs. Reactive
airways disease is a common feature. The situs inversus is often complete,
but may only be partial (isolated dextrocardia or isolated transposition of
abdominal viscera). Presumably, in an embryo that is homozygous for the mutation
causing primary ciliary dyskinesia, there is no ciliary control of organ
position. Therefore, approximately 50% of patients have situs solitus of
the heart (levocardia), lungs, and abdominal organs, and the other 50%
have partial or complete situs inversus, that is, Kartagener syndrome. A
large number of patients with situs inversus are undiagnosed and
asymptomatic. Additional cardiac malformations, such as atrial septal
defect, right pulmonary artery hypoplasia, and transposition of the great
vessels, usually occur in patients with isolated dextrocardia, levocardia
with partial situs inversus (abdominal contents transposed), and
dextrocardia with situs ambiguous (abdominal contents neither left nor right
sided). Up to 90% of such patients have associated congenital heart
disease, whereas only approximately 3% of patients with Kartagener
syndrome have additional cardiac anomalies. Headaches, often of unclear
etiology, are common. Communicating hydrocephalus, possibly as a result of
impaired ependymal cilia function preventing CSF resorption, can occur.
Asplenia is an infrequent finding, usually only seen in patients with situs
ambiguus. Males are almost universally sterile because of absent sperm
motility. Most women with Kartagener syndrome are fertile, despite the
belief that ciliary action moves the ovum down the Fallopian tubes. Heterozygotes
have normal ciliary function and no clinical features of PCD. Defective
leukocyte migration has been reported in PCD, apparently secondary to
cytoplasmic microtubule defects. This leukocyte problem has not been shown
to have significant implications for the clinical course.
With respect to respiratory manifestations, management is directed at early
and aggressive treatment of sinusitis and pulmonary infections to prevent
the impairment of respiratory function. Major congenital cardiac
malformations may require corrective surgery.