Kartagener syndrome with pulmonary mycetoma and recurrent thromboembolism: A case report

Kartagener syndrome, a variant of primary ciliary dyskinesia, is defined by chronic sinusitis, bronchiectasis, and situs inversus. While recurrent infections are seen, a combination of thromboembolic disease, pulmonary mycetoma, cardiac dysfunction, and serological evidence of autoimmune disorders is very uncommon.

A 27-year-old man with Kartagener syndrome and situs inversus totalis complaining of worsening dyspnea, chest pain, fever, hemoptysis, and ankle swelling. His past medical history included episodes of deep vein thrombosis, recurrent pulmonary embolism, and chronic productive cough.

Radiologic studies showed dextrocardia, a right upper lobe cavitary lesion indicative of pulmonary mycetoma, hepatic congestion, and ascites. The echocardiogram demonstrated severe dysfunction of both left and right ventricles, a thrombus in the right ventricle, mild-moderate pericardial effusion, and an ejection fraction of about 40%. BNP was elevated, and U1-ribonucleoprotein antibodies were positive, implying a probable overlap of autoimmune disease, but diagnostic criteria were not fulfilled.

He was prescribed appropriate heart failure management, anticoagulant therapy, antifungals, and multidisciplinary treatment of other issues.

The patient underwent adequate management of his cardiopulmonary, infectious, and thromboembolic complications. The existence of a causal link between these diseases could not be found. This case underscores the need for a multidisciplinary approach in evaluating patients with a combination of congenital and acquired systemic diseases. The association of Kartagener syndrome, pulmonary mycetoma, thromboembolic tendency, right ventricular thrombus formation, cardiac dysfunction, and positive U1-RNP is an unusual combination and calls for proper evaluation.