kartagener 's syndrome ( ks ) is a subset of a larger group of ciliary motility disorders called primary ciliary dyskinesias ( pcds ) .
it is a genetic condition with an autosomal recessive inheritance , comprising a triad of situs inversus , bronchiectasis and sinusitis .
although siewart first described this condition in 1904 , it was kartagener who recognized the etiological correlation between the elements of the triad and reported four cases in 1933 . the estimated prevalence of pcd is about 1 in 30,000 , though it may range from 1 in 12,500 to 1 in 50,000 . in ks , the ultrastructural genetic defect leads to impaired ciliary motility which causes recurrent chest , ear / nose / throat ( ent ) , and sinus infections , and infertility .
a high index of suspicion is needed to make an early diagnosis so that timely treatment options may be offered for infertility in these young patients , wherever feasible . also , although unproven , it seems likely
that early diagnosis is important for the preservation of pulmonary function , quality of life , and life expectancy in this disease .
this was a 34-year - old non - smoker male , born to non- consanguineous parents .
he presented to the outpatient with chief complaints of recurrent episodes of common cold , sneezing , and cough with expectoration for past 10 years , exertional shortness of breath for last 5 years , and not having children despite being married for last 14 years .
the patient also revealed that he frequently developed cough , cold , rhinorrhea , nasal blockade , and ear discharge during childhood .
he received anti - tubercular treatment for these complaints 5 years back with no relief .
chest x - ray at that time was done , but was not available . on examination ,
physical examination revealed grade 2 digital clubbing and apex beat on the right side in fifth intercostal space . on auscultation ,
bilateral wheeze and right basal crackles were audible , with heart sounds being best heard on the right side of the chest .
chest x - ray postero - anterior ( pa ) view [ figure 1a ] revealed cardiac apex and aortic arch on the right side , suggesting dextrocardia along with left - sided bochdalek 's hernia .
an ultrasound of the abdomen revealed a normal liver and gall bladder on the left side and a normal spleen on the right side .
contrast - enhanced computed tomography ( cect ) chest [ figure 1b ] revealed dextrocardia , nodular opacities in right lower lobe suggestive of bronchiectasis , and left - sided bochdalek 's hernia containing omentum and large bowel loops . a semen analysis revealed azoospermia , while the hormone profile was suggestive of hyperprolactinemia with normal luteinizing hormone and follicle stimulating hormone levels .
( a ) chest x - ray pa view showing dextrocardia and left - sided bochdalek 's hernia ; ( b ) cect - chest showing right - sided bronchiectasis , dextrocardia , and left - sided bochdalek 's herina this was a 55-year - old non - smoker female .
she presented to us with chief complaints of recurrent cold , cough with copious expectoration , anosmia , headache , and progressively increasing shortness of breath for last 30 years .
she received anti - tubercular treatment for these complaints 12 years back for 6 months , with no relief .
her past history was significant as she had frequent visits to the pediatrician for recurrent chest infections .
the patient had a blood pressure of 110/72 mmhg , pulse rate 92/minute regular , and oxygen saturation 76% on room air .
general examination revealed bilateral pedal edema , raised jugular venous pressure , facial puffiness , and grade 3 clubbing . on auscultation ,
x - ray paranasal sinuses revealed mucosal thickening with hazy sinuses [ figure 2a ] .
chest x - ray [ figure 2b ] and high - resolution computed tomography ( hrct ) thorax revealed bronchiectasis and situs inversus .
( a ) x - ray pns showing opacified maxillary sinuses ; ( b ) chest x - ray pa view showing dextrocardia and left - sided bronchiectasis a 40-year - old male patient , non - smoker , and born to non - consanguineous parents presented with recurrent productive cough , rhinorrhea , and headache since last 20 years with episodic fever and worsening of symptoms .
he had been previously treated with antibiotics , antihistamines , bronchodilators , inhaled and oral corticosteroids , and even anti - tuberculous drugs , but the response was only partial and temporary .
, he was febrile with nasal discharge , wheezy chest , and bilateral coarse crackles .
chest x - ray [ figure 3a ] showed cystic bronchiectactic changes in the lower and mid zones with dextrocardia .
ultrasound of the abdomen showed spleen on the right side of the abdomen , while liver on the left was suggestive of complete situs inversus .
( a ) cystic bronchiectactic changes in the lower and mid zones with dextrocardia ; ( b ) axial ct image abdomen showing situs inversus with the liver and ivc on the left and the spleen and aorta on the right ; ( c ) axial ct image paranasal sinuses showing mucosal thickening and opacified sinus cavities axial ct - chest showed dextrocardia with the inferior vena cava ( ivc ) and morphologic right ventricle on the left and the left ventricle on the right .
axial ct - abdomen showed situs inversus with the liver and ivc on the left and the spleen and aorta on the right figure 3b .
hematological and biochemical parameters were within normal limits except semen analysis which showed oligospermia with immotile live sperms .
this was a 34-year - old non - smoker male , born to non- consanguineous parents .
he presented to the outpatient with chief complaints of recurrent episodes of common cold , sneezing , and cough with expectoration for past 10 years , exertional shortness of breath for last 5 years , and not having children despite being married for last 14 years .
the patient also revealed that he frequently developed cough , cold , rhinorrhea , nasal blockade , and ear discharge during childhood .
he received anti - tubercular treatment for these complaints 5 years back with no relief .
chest x - ray at that time was done , but was not available . on examination ,
physical examination revealed grade 2 digital clubbing and apex beat on the right side in fifth intercostal space . on auscultation ,
bilateral wheeze and right basal crackles were audible , with heart sounds being best heard on the right side of the chest .
chest x - ray postero - anterior ( pa ) view [ figure 1a ] revealed cardiac apex and aortic arch on the right side , suggesting dextrocardia along with left - sided bochdalek 's hernia .
an ultrasound of the abdomen revealed a normal liver and gall bladder on the left side and a normal spleen on the right side .
contrast - enhanced computed tomography ( cect ) chest [ figure 1b ] revealed dextrocardia , nodular opacities in right lower lobe suggestive of bronchiectasis , and left - sided bochdalek 's hernia containing omentum and large bowel loops . a semen analysis revealed azoospermia , while the hormone profile was suggestive of hyperprolactinemia with normal luteinizing hormone and follicle stimulating hormone levels .
( a ) chest x - ray pa view showing dextrocardia and left - sided bochdalek 's hernia ; ( b ) cect - chest showing right - sided bronchiectasis , dextrocardia , and left - sided bochdalek 's herina
she presented to us with chief complaints of recurrent cold , cough with copious expectoration , anosmia , headache , and progressively increasing shortness of breath for last 30 years .
she received anti - tubercular treatment for these complaints 12 years back for 6 months , with no relief .
her past history was significant as she had frequent visits to the pediatrician for recurrent chest infections .
the patient had a blood pressure of 110/72 mmhg , pulse rate 92/minute regular , and oxygen saturation 76% on room air .
general examination revealed bilateral pedal edema , raised jugular venous pressure , facial puffiness , and grade 3 clubbing . on auscultation , diffuse ronchi and crackles ( more on the left side ) were heard .
x - ray paranasal sinuses revealed mucosal thickening with hazy sinuses [ figure 2a ] .
chest x - ray [ figure 2b ] and high - resolution computed tomography ( hrct ) thorax revealed bronchiectasis and situs inversus .
( a ) x - ray pns showing opacified maxillary sinuses ; ( b ) chest x - ray pa view showing dextrocardia and left - sided bronchiectasis
a 40-year - old male patient , non - smoker , and born to non - consanguineous parents presented with recurrent productive cough , rhinorrhea , and headache since last 20 years with episodic fever and worsening of symptoms .
he had been previously treated with antibiotics , antihistamines , bronchodilators , inhaled and oral corticosteroids , and even anti - tuberculous drugs , but the response was only partial and temporary .
he also had similar complaints , off and on , during childhood . on examination , he was febrile with nasal discharge , wheezy chest , and bilateral coarse crackles .
chest x - ray [ figure 3a ] showed cystic bronchiectactic changes in the lower and mid zones with dextrocardia .
ultrasound of the abdomen showed spleen on the right side of the abdomen , while liver on the left was suggestive of complete situs inversus .
( a ) cystic bronchiectactic changes in the lower and mid zones with dextrocardia ; ( b ) axial ct image abdomen showing situs inversus with the liver and ivc on the left and the spleen and aorta on the right ; ( c ) axial ct image paranasal sinuses showing mucosal thickening and opacified sinus cavities axial ct - chest showed dextrocardia with the inferior vena cava ( ivc ) and morphologic right ventricle on the left and the left ventricle on the right .
axial ct - abdomen showed situs inversus with the liver and ivc on the left and the spleen and aorta on the right figure 3b .
hematological and biochemical parameters were within normal limits except semen analysis which showed oligospermia with immotile live sperms .
nearly 50% of pcd patients have situs inversus . such cases of pcd with situs inversus are known as kartagener 's syndrome .
pcd is a phenotypically and genetically heterogeneous condition wherein the primary defect is in the ultrastructure or function of cilia .
such defects are identified in approximately 90% of pcd patients and involve the outer dynein arms , inner dynein arms , or both .
pathophysiologically , the underlying defect which leads to accumulation of secretions and consequent recurrent sinusitis , bronchiectasis , infertility , and situs inversus is the defective ciliary motility / immotility .
the severity of symptoms and the age at which the condition is diagnosed is quite variable , even though the symptoms are present from birth .
diagnostic criteria for this condition include clinical picture suggestive of recurrent chest infections , bronchitis , and rhinitis since childhood , along with one or more of the following : ( 1 ) situs inversus in the patient / sibling ; ( 2 ) alive but immotile spermatozoa ; ( 3 ) reduced or absent transbronchial mucociliary clearance ; and ( 4 ) cilia showing characteristic ultrastructural defect on electron microscopy .
apart from fulfilling the criteria mentioned above , two types of tests are done for diagnosis of pcd  screening tests ( exhaled nasal nitric oxide measurement which is usually low in pcd , and saccharin test to assess mucociliary function of nasal epithelium ) and diagnostic tests ( ciliary beat pattern and frequency analysis using video recording , and electron microscopic confirmation of the ultrastructural ciliary defect ) . the samples for these tests for examining motility and ultrastructure of cilia may be obtained by biopsy of nasal mucosa and laparoscopic biopsies of tubal mucosa in females , as was done by halbert et al . in our cases , however , we could not perform these tests and the diagnosis was essentially clinico - radiological , with variation in view of azoospermia and oligospermia .
these situations have been infrequently reported previously,[1618 ] and it could be possible that they are a variant associated with ks .
most infertile patients with ks have a normal spermatozoid count , but with a structural defect and a complete lack of motility .
the hyperprolactinemia present in our first case could possibly be coincidental , as a search of literature has reported it to be a cause of infertility but has not revealed an association between this condition and ks .
the issue of fertility was not addressed in the initial published reports of patients with ks until arge reported three male patients with this syndrome having immotile spermatozoa and sterility .
infertility in male ks patients is due to diminished sperm motility , while in females it is due to defective ovum transport because of dyskinetic motion of oviductal cilia , suggesting that the ciliated endosalpinx is essential for human reproduction .
the development of assisted reproductive techniques has allowed rational treatment for these patients , and to date , there have been reported pregnancies using subzonal insemination ( suzi ) and intracytoplasmic sperm injection ( icsi ) .
the case report of kordus et al . shows that even in severe cases of asthenozoospermia , icsi can overcome the inability of the spermatozoa to reach the ovum and produce healthy offspring .
however , both suzi and icsi require expertise not available in all units and there are concerns over costs and outcomes .
until more is known with regard to the genetic control of pcd , it is suggested that treatment should be individualized depending on sperm motility . in cases where there is no sperm motility
however , if sperm motility is present , a trial of in vitro fertilization ( ivf ) should be considered .
one concern regarding the fertility treatment of men with pcd is the possibility that the resultant child has the risk of being affected by the same condition .
it is therefore necessary to counsel couples regarding the possibility of genetic risks and to follow - up children fathered by men affected by pcd . to conclude , ks patients are frequently troubled by repeated infection episodes for which they have to seek medical attention and this is largely the reason for their morbidity .
but infertility is also one important aspect that needs to be adequately addressed in their evaluation so that they may be offered a suitable option that could help them have children .
 kartagener 's syndrome is a rare , autosomal recessive genetic ciliary disorder comprising the triad of situs inversus , chronic sinusitis , and bronchiectasis . 
 the basic problem lies in the defective movement of cilia , leading to recurrent chest infections , ear / nose / throat symptoms , and infertility . 
 we hereby report three unusual cases of this rare entity  an infertile male with azoospermia in whom bochdalek 's diaphragmatic hernia coexisted , another case of an infertile female , and a third of an infertile male with oligospermia . the need for a high index of suspicion to make an early diagnosis 
 can not be overemphasized in such patients so that wherever possible , options for timely treatment of infertility may be offered and unnecessary evaluation of symptoms is avoided . 