Abstract

Background: Kartagener syndrome (KS) is a rare genetic disorder, autosomal recessive in nature, and a classical subtype of primary ciliary dyskinesia (PCD). While often associated with situs inversus totalis (simple reversal of all organs), KS with situs ambiguus (heterotaxy) and left isomerism is a rare, complex form of PCD, with polysplenia and an interrupted inferior vena cava (IVC).
Case Presentation: An 18-year-old male case was reported with a history of asthma, recurrent respiratory infections, and progressive dyspnea. The patient was found to have bilateral bronchiectasis and dextrocar dia on chest radiograph (CXR). High-resolution computed tomography confirmed the CXR findings, bilateral bilobed lungs, situs ambiguus with polysplenia, right-sided aortic arch, azygos continuation of the IVC, intestinal malrotation, and partial dorsal pancreatic agenesis, consistent with heterotaxy syndrome (left isomerism). Thorough workup excluded other causes of bronchiectasis. The patient developed hypoxemic respiratory failure due to an acute bronchiectasis exacerbation with superimposed pneumonia, needing a multidisciplinary approach, including supportive clinical treatment (focusing on ‘pulmonary toilet’/clearing mucus), appropriate antibiotics, corticosteroids, bronchodilators, and chest physiotherapy.
Conclusion: This case highlighted the challenges in diagnosing KS associated with left isomerism and rare anatomical abnormalities, emphasizing the need for detailed imaging and long-term care to optimize patient outcomes.

Key words: Kartagener Syndrome, primary ciliary dyskinesia, bronchiectasis, situs inversus, heterotaxy syndrome, dextrocardia, hypoxemic respiratory failure, case report