Kartagener’s Syndrome

Gabrielle Morris

66yo male for colonoscopy for polypectomy. 

Background

  • Kartagener’s Syndrome
    • Bronchiectasis
      • Chronic SOB, ok on flat
      • FEV1 1.65 (50%), FVC 2.71 (63%) ratio 61% TLCO 54%
    • Situs inversus totalis
  • IHD
  • HTN & Dyslipidaemia

Issues

  • 2019 critical illness
    • Life-threatening pulmonary haemorrhage
    • Failed intubation due to bleeding -> surgical cricothyroidotomy
    • 2/12 ICU stay, 17 days ECMO, DVT, IVC filter.
    • Multiple tracheal/bronchial clot retrievals and bronchial artery embolization.
  • Recent Colonoscopy/ICU stay
    • Failed colonoscopy in private hospital due to difficulty passing scope. 
    • Patient reported anaesthesia complication and ICU stay post-procedure 
    • Anaesthetic chart – THRIVE and sedation, nil concerns
    • ICU d/c summary – precautionary admission, nil adverse events. 
       

Discussion

  • What is Kartagener’s Syndrome?
    • Autosomal recessive, multiple possible genetic pathways known, some unidentified.
    • Primary ciliary dyskinesia leads to:
      • Neonatal distress syndrome
      • Frequent sinus and middle ear infections, hearing loss
      • Frequent resp infections, leading to bronchiectasis
      • Infertility
    • Situs inversus totalis (but organs unaffected in other ways)

Plan

  • Proceed to colonoscopy
  • Suggest right lateral position to aid scope passage. 
  • If more major surgery required consider pulmonary rehab, nutrition optimization and respiratory review for bronchiectasis.