: Kartagener's Syndrome is a rare autosomal recessive genetic condition, that affects the structure and function of cilia and includes a condition of situs inversus, chronic sinusitis, and bronchiectasis associated sometimes with infertility. A young patient who had a long-time fever, cough, and infertility after a clinical evaluation performed a chest X-ray and a CT scan that revealed the unexpected condition of Situs Inversus Totalis (SIT). Imaging also showed bronchiectasis and sinusitis: all findings consistent with Kartagener's syndrome, confirmed a second time by the genetic test. This case highlights the importance of knowing and considering situs inversus in clinical practice, particularly when interpreting imaging studies and planning medical interventions. Furthermore, as situs inversus may be associated with cardiovascular and pulmonary pathologies in several syndromic conditions, such as Kartagener's syndrome in this case, these conditions should always be carefully examined.

Kartagener's syndrome: A rare condition diagnosed in a young male patient

Balbino, Marina;Montatore, Manuela;Masino, Federica;Guglielmi, Giuseppe
2024-01-01

Abstract

: Kartagener's Syndrome is a rare autosomal recessive genetic condition, that affects the structure and function of cilia and includes a condition of situs inversus, chronic sinusitis, and bronchiectasis associated sometimes with infertility. A young patient who had a long-time fever, cough, and infertility after a clinical evaluation performed a chest X-ray and a CT scan that revealed the unexpected condition of Situs Inversus Totalis (SIT). Imaging also showed bronchiectasis and sinusitis: all findings consistent with Kartagener's syndrome, confirmed a second time by the genetic test. This case highlights the importance of knowing and considering situs inversus in clinical practice, particularly when interpreting imaging studies and planning medical interventions. Furthermore, as situs inversus may be associated with cardiovascular and pulmonary pathologies in several syndromic conditions, such as Kartagener's syndrome in this case, these conditions should always be carefully examined.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11369/455917
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