A Case of Kartagener Syndrome With Pulmonary Hypertension

Babaji Ghewade, Smaran Cladius, Swapnil Chaudhari, Arvind Bhake


Primary ciliary dyskinesia (PCD) is a genetically heterogeneous syndrome caused by defect in motile cilia. The true prevalence is unknown but estimated to affect 1:20,000 to 1:100,000 people. Estimated incidence is 1 per 10 to 20,000 births. In 1933, Kartagener described the PCD syndrome as the triad of situs inversus, bronchiectasis, and either nasal polyps or recurrent sinusitis, while the description by Afzelius in 1976 of the defects in the ultrastructure of ciliary dynein arms revealed the basis of this condition. Thus, clinical findings include respiratory distress in neonates, recurrent respiratory tract infections, bronchiectasis, situs inversus, infertility, and heterotaxy in approximately 50%. Here we report a rare case of a young female with recurrent respiratory symptoms, dextrocardia, and situs inversus, who was misdiagnosed as a case of pulmonary tuberculosis and had received three courses of anti-tubercular therapy since year 2003, and finally diagnosed as Kartagener syndrome with severe pulmonary hypertension.

J Med Cases. 2016;7(8):326-330
doi: http://dx.doi.org/10.14740/jmc2412w


Primary ciliary dyskinesia; Kartagenerís syndrome; Situs inversus; Bronchiectasis

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