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Case Report

Kartagener’s syndrome: A rare phenotype of a rare disease

Manuel Serrano Martins, Fabiana Pimentel, Andre Pinto, Mariana Guerra, Wildemar Costa.

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Kartagener's syndrome is a rare genetic condition, classified in a group of disorders called primary ciliary dyskinesia in which the symptoms result from abnormal cilia motility. Is characterized by the triad of chronic sinusitis, bronchiectasis, and situs inversus and males are usually infertile. Authors document a case of a 54-year-old male with a history of recurrent respiratory infections since childhood, presented to the emergency room with pre-cordial chest pain of sudden onset and. The patient was diagnosed with Non-ST-elevation myocardial infarction. Further imaging investigation revealed complete situs inversus, bilateral bronchiectasis and sinonasal polyposis. Nasal brush sample visualization by transmission electron microscopy revealed outer dynein arms defect, confirming the diagnosis of Kartagener’s syndrome. Since the patient fathered a child, infertility was ruled out. This diagnosis is usually delayed because the clinical picture mimics common respiratory infections. Early diagnosis and management are important to provide a better quality of life. Infertility issues should be addressed promptly. Genetic testing should be performed as it carries the potential for developing gene therapy.

Key words: Kartagener’s syndrome, situs inversus, dextrocardia, bilateral bronchiectasis, male infertility

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