[Kartagener's syndrome: a case report]

Area of Science:

• Pediatric Cardiology
• Pulmonology
• Genetics

Background:

• Kartagener's syndrome is a rare genetic disorder characterized by the triad of situs inversus, chronic sinusitis, and bronchiectasis.
• Congenital heart defects can be associated with Kartagener's syndrome, complicating diagnosis and management.

Observation:

• An 8-year-old girl presented with congenital heart disease, severe heart failure, and chronic bronchitis.
• Diagnostic workup revealed an incomplete endocardial cushion defect, single atrium, and situs inversus, confirmed by ultrasonography.

Findings:

• The patient underwent successful cardiac surgery for atrial septation and mitral valve repair, with a subsequent revision surgery for mitral insufficiency and residual shunt.
• Bronchoscopy and lung biopsy confirmed Kartagener's syndrome, identifying persistent atelectasis.
• Post-surgery, cardiac symptoms resolved, but chronic bronchitis and pansinusitis persist.

Implications:

• This case highlights the importance of considering Kartagener's syndrome in pediatric patients with complex congenital heart disease and respiratory symptoms.
• Early diagnosis and multidisciplinary management are crucial for improving outcomes in patients with this rare condition.
• Further research into the genetic and clinical spectrum of Kartagener's syndrome is warranted.