Medical Image of the Week: Kartagener Syndrome

Figure 1. Panel A: AP chest x-ray showing dextrocardia with left sided pneumothorax. Panel B: CT Chest lung windows showing diffuse bronchiectasis. Panel C: CT Abdomen consistent with situs inversus.

A 65-year-old woman presented with 7 days of productive cough and the new onset sharp central chest pain. She has a known history of chronic sinusitis and COPD after being a 50 pack-year smoker. On examination, her blood pressure was 116/70 with a heart rate of 86 (sinus rhythm) and oxygen saturations were 93% on 4L/min by nasal cannula. She had bilateral expiratory wheezes with reduced air entry on the left side.

An AP chest x-ray revealed dextrocardia with a left sided tension pneumothorax (Figure 1A). Our patient was stabilized with an urgent chest tube insertion and taken for a CT chest and abdomen. CT chest indicated diffuse bronchiectasis (Figure 1B, arrow) with a CT of the abdomen showing reversal of major abdominal organs (Figure 1C).

First described in 1933, the triad of chronic sinusitis, bronchiectasis, and situs inversus is classic for Kartagener syndrome (1). Otherwise known as primary ciliary dyskinesia, it is an autosomal recessive disorder affecting the dynein motor protein on microtubules. Ciliary dysfunction from an embryonic stage is the underlying cause for 50% of patients with situs inversus (2). Ongoing difficulties clearing mucous and secretions from abnormal ciliary movements accelerates the development of rhinosinusitis and bronchiectasis (3). Fertility is also a common concern with most males being infertile and females having a lower likelihood of successful pregnancy (4).

Confirmatory testing requires electron microscopy to determine ultrastructure and high-speed video microscopy to determine abnormal movement of cilia (4). Long-term management involves control of respiratory complications with regular spirometry and pulmonary follow up.

Debraj Das, MD

Department of Medicine

Faculty of Medicine and Dentistry

University of Alberta

Edmonton, AB, Canada

References 

1. Kartagener M. Zur pathogenese der bronchiectasien. I Mitteilung: bronchiectasien bei situs viscerum inversus. Betr Klin Tuberk. 1933; 83:498-501.
2. Noone PG, Leigh MW, Sannuti A, et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med. 2004; 169:459-467. [CrossRef] [PubMed]
3. Bush A, Cole P, Hariri M, et al. Primary ciliary dyskinesia: diagnosis and standards of care. Eur Respir J. 1998; 12:982-988. [CrossRef] [PubMed]
4. Knowles MR, Daniels LA, Davis SD, et al. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med. 2013; 188:913-22. [CrossRef] [PubMed] 

Reference as: Das D. Medical image of the week: Kartagener syndrome. Southwest J Pulm Crit Care. 2015;10(6):343-4. doi: http://dx.doi.org/10.13175/swjpcc057-15 PDF

Medical Image of the Week: Kartagener Syndrome

Figure 1. Chest x-ray showing right-sided aortic knob, heart and stomach bubble (arrows).

Figure 2. Abdominal CT scan showing right-sided stomach bubble (white arrow) and left-sided liver (yellow arrow).

Figure 3. Representative thoracic CT lung windows showing bronchiectasis with bronchi larger than blood vessels with thickened bronchial walls (arrows).

A 52 year old woman was admitted for dyspnea and fatigue. Kartagener syndrome had been diagnosed at age 3 with situs inversus totalis (Figures 1 and 2). She has bronchiectasis (Figure 3) with chronic Pseudomonas colonization, chronic sinusitis, and nasal polyposis.

Kartagener syndrome is a type of primary cilia dyskinesia or immotile-cilia syndrome. When primary ciliary dyskinesia is combined with situs inversus it is known as Kartagener syndrome (KS) after the Swiss internist who recognized the association of situs inversus, bronchiectasis and sinusitis (1). It is popular in case presentations especially with the chest x-ray or CT scans deliberated presented inverted.

KS is an autosomal recessive disorder of the ciliary axoneme with incomplete penetrance and extensive heterogeneity (2). The typical ciliary axoneme consists of 2 central microtubules surrounded by 9 microtubular doublets. Patients with primary ciliary dyskinesia exhibit a wide range of defects in ciliary ultrastructure and motility, which ultimately impairs ciliary beating and mucociliary clearance. The most common defect is a reduction in the number of dynein arms, which decreases the ciliary beat frequency.

Treatment is similar to other forms of bronchiectasis and sinusitis. There is no definitive curative therapy.

Nam H. Chan MD, Robert W. Viggiano MD and Lewis J. Wesselius MD

Department of Pulmonary Medicine

Mayo Clinic Arizona

Scottsdale, AZ

References

1. Kartagener M. Zur pathogenese der bronchiectasien. I Mitteilung:bronchiectasien bei situs viscerum inversus. Betr Klin Tuberk. 1933;83:498-501.
2. Bent JP III, Willis EB. Kartagener syndrome. Medscape. Available at: http://emedicine.medscape.com/article/299299-overview (accessed 10/2/13).

Reference as: Chan NH, Viggiano RW, Wesselius LJ. Medical image of the week: Kartagener syndrome. Southwest J Pulm Crit Care. 2013;7(4):239-40. doi: http://dx.doi.org/10.13175/swjpcc137-13 PDF