Breathing, Heart and Positioning: the Complex World of Kartagener Syndrome in a Clinical Case from Ecuador

Abstract

Kartagener syndrome is an autosomal recessive disease that affects approximately 1 in 10,000 to 30,000 individuals worldwide. It is part of the primary ciliary dyskinesia spectrum, characterized by the classic triad of situs inversus, bronchiectasis, and chronic sinusitis, due to the dysfunction of cilia responsible for mucus transport and proper organ positioning during embryonic development. Patients present with chronic respiratory symptoms from infancy, such as recurrent infections in the sinuses and lungs, persistent cough and respiratory difficulties. Diagnosis is based on clinical symptoms and genetic or microscopic tests confirming ciliary dysfunction. Management is symptomatic, focusing on controlling infections and improving quality of life through respiratory physiotherapy and antibiotics. A case is presented of a 31-year-old male diagnosed a year ago at Monte Sinai General Hospital. Throughout his life, the patient experienced recurrent respiratory infections and was diagnosed with bronchiectasis and a positive culture for Pseudomonas aeruginosa. In April 2024, he was admitted with complicated pneumonia and respiratory failure, passing away within 72 hours due to complications such as sepsis and multiple organ failure. This case highlights the severity and complications associated with Kartagener syndrome, emphasizing the need for comprehensive medical care.