A 10-year-old girl is admitted to the medical floor for a respiratory infection. The patient lives in a foster home and has been admitted many times. Since birth, the patient has had repeated episodes of pain/pressure over her frontal sinuses and a chronic cough that produces mucus. She was recently treated with amoxicillin for an infection. The patient is in the 25th percentile for height and weight which has been constant since birth. Her guardians state that the patient has normal bowel movements and has been gaining weight appropriately. The patient has a history of tricuspid stenosis. She also recently had magnetic resonance imaging (MRI) of her chest which demonstrated dilation of her airways. Her temperature is 99.5°F (37.5°C), blood pressure is 90/58 mmHg, pulse is 120/min, respirations are 18/min, and oxygen saturation is 94% on room air. Physical exam is notable for bruises along the patient's shins which the guardians state are from playing soccer. The rest of the exam is deferred because the patient starts crying. Which of the following findings is associated with this patient's most likely underlying diagnosis?
Diastolic murmur best heard along the right lower sternal border
Hypocalcemia
Increased chloride in the patient's sweat
Repeat sinus infections secondary to seasonal allergies
Diastolic murmur best heard along the right lower sternal border
This patient is presenting with recurrent sinus infections suggestive of Kartagener syndrome. Dextrocardia is a common feature in this pathology, which results in right-sided heart sounds or a diastolic murmur best heard along the right lower sternal border for this patient's tricuspid stenosis.

Kartagener syndrome (primary ciliary dyskinesia) occurs secondary to a genetic defect in a patient's cilia. This results in a clinical picture of recurrent sinusitis, recurrent upper respiratory infections, bronchiectasis, and situs inversus (all major organs are a mirror image of where they should be). A physical exam will reveal right-sided heart sounds and a chest radiograph will demonstrate dextrocardia. Treatment is with respiratory support, assistance with mucociliary clearance, and treatment of infections.

Leigh et al. review the evidence regarding the manifestations of Kartagener syndrome. They discuss how about 50% of patients have situs inversus. They recommend respiratory support for these patients given the overlap with other mucociliary clearance disorders such as cystic fibrosis.

Incorrect Answers:
Answer B: Hypocalcemia would be seen in DiGeorge syndrome which presents with CATCH-22 (Cleft palate/lip, Abnormal facies, Thymic aplasia, Cardiac defects, Hypocalcemia, and chromosome 22 deletion). Treatment is with calcium repletion, surgical treatment of cardiac defects, and treatment of infections.

Answer C: Increased chloride in the patient's sweat describes cystic fibrosis which would present with weight loss, failure to thrive, and fatty/foul-smelling stools. Treatment is with respiratory support, assistance with mucociliary clearance, and treatment of infections.

Answer D: Repeat sinus infections secondary to seasonal allergies describe sinusitis, which may be present in this patient but does not explain the entire clinical picture. Treatment is with antihistamines.

Answer E: Social withdrawal and avoidance of eye contact describe child abuse which seems unlikely in this case given the constellation of symptoms that suggest Kartagener syndrome.

Bullet Summary:
Kartagener syndrome presents with recurrent sinusitis, bronchiectasis, and situs inversus.