Kartagener's Syndrome With Complications: Diagnostic Challenges in a Resource‐Limited Setting

ABSTRACT

Kartagener's Syndrome (KS) is a rare genetic disorder characterized by bronchiectasis, chronic sinusitis, and situs inversus. This case report presents a 14‐year‐old girl from rural Bangladesh diagnosed with KS, who exhibited progressive respiratory distress, recurrent sinus infections, and primary amenorrhea. Diagnostic imaging revealed dextrocardia, bronchiectasis, and pulmonary hypertension. The patient was managed with oxygen therapy, chest physiotherapy, antibiotics, bronchodilators, diuretics, and hormonal support. This case highlights the challenges of diagnosing KS in low‐resource settings and emphasizes the importance of early diagnosis and multidisciplinary care to prevent disease progression and improve patient outcomes.

Summary.

• Early recognition of Kartagener's Syndrome is crucial to manage respiratory complications, pulmonary hypertension, and infertility.

• In resource‐limited settings, diagnosis often relies on clinical evaluation and limited investigations, highlighting the need for increased awareness and multidisciplinary care to improve patient outcomes.

1. Introduction

Kartagener's Syndrome (KS) is a rare autosomal recessive disorder and a distinct subset of primary ciliary dyskinesia (PCD), a genetically heterogeneous condition affecting the structure and function of motile cilia. The syndrome is classically defined by a triad of situs inversus totalis, chronic sinusitis, and bronchiectasis [1]. The estimated prevalence of KS is approximately 1 in 16,000 to 20,000 live births, with variations across different populations due to consanguinity and genetic predisposition [2]. PCD, the broader disorder encompassing KS, has an estimated incidence of 1 in 10,000 to 40,000 live births and is caused by mutations in more than 50 identified genes that impair ciliary motility [3].

Patients with KS commonly present with recurrent upper and lower respiratory tract infections due to defective mucociliary clearance, leading to chronic sinusitis, persistent productive cough, and progressive bronchiectasis [4]. Situs inversus totalis, a hallmark feature of KS, is present from birth but often remains undetected until imaging studies are performed for respiratory symptoms [5]. Additional clinical manifestations include chronic otitis media with conductive hearing loss, nasal polyposis, and, in some cases, infertility due to impaired sperm motility in males and dysfunctional ciliary action in the fallopian tubes in females [6]. If left untreated, KS can lead to progressive lung damage, respiratory failure, and a decline in pulmonary function due to recurrent infections [7].

Despite the well‐characterized phenotype, KS is frequently misdiagnosed or diagnosed late due to its clinical overlap with other chronic respiratory diseases such as asthma, cystic fibrosis, and immunodeficiencies [7] Early diagnosis is essential, as targeted interventions can slow disease progression and enhance the patient's quality of life [8, 9].

This case report describes a 14‐year‐old girl diagnosed with Kartagener's Syndrome, detailing her clinical presentation, diagnostic workup, and management approach. Through this report, we emphasize the significance of early recognition and a multidisciplinary care strategy for optimizing outcomes in KS patients.

2. Case History

A 14‐year‐old girl from a rural village in Bangladesh was admitted to the Medicine Department of the 250‐Bedded General Hospital, Thakurgaon, with complaints of progressive respiratory distress, recurrent sinus infections, and primary amenorrhea. She had been experiencing shortness of breath, heaviness of the head, headache, heartburn, and absence of menstruation. Perinatal history revealed that she was a full‐term infant with a delayed cry at birth. Since infancy, she had experienced frequent respiratory tract infections and recurrent sinus infections accompanied by chronic rhinitis. She had also required two previous hospital admissions due to episodes of severe respiratory distress. She had been receiving long‐term homeopathic treatment for her respiratory symptoms, with minimal clinical improvement. She was the child of a non‐consanguineous marriage and had three siblings, none of whom had similar health issues.

On physical examination, she appeared pale, with short stature, facial swelling, and leg edema. She also exhibited cyanosis, with an oxygen saturation (SpO₂) of approximately 70% on room air. Chest examination revealed bilateral coarse crepitations in the middle and lower lung zones. Precordial examination demonstrated elevated jugular venous pressure (JVP), a right parasternal heave, and a loud second heart sound (P2), with no audible murmurs.

3. Methods/Diagnosis

Further investigations provided key diagnostic findings. Chest X‐ray revealed dextrocardia with bilateral bronchiectasis, while high‐resolution CT (HRCT) of the chest confirmed bilateral bronchiectasis (Figure 1). Paranasal sinus (PNS) X‐ray showed frontal sinus agenesis and maxillary sinusitis, indicative of chronic sinus involvement (Figure 2). Echocardiography revealed pulmonary hypertension with a pulmonary artery systolic pressure (PASP) of 70 mmHg, suggesting significant cardiovascular involvement. Due to the significantly elevated pulmonary artery systolic pressure (PASP), we considered other possible causes, such as congenital heart disease, in addition to our provisional diagnosis. However, due to the unavailability of transesophageal echocardiography and ventilation‐perfusion (V/Q) scanning, as well as financial constraints, these investigations could not be performed to definitively exclude other potential causes of pulmonary hypertension. Abdominal ultrasonography (USG) demonstrated hepatomegaly with hepatic congestion, though all abdominal viscera were in their normal anatomical positions. We also considered genetic testing, hormone panel (LH, FH, thyroid profile), nasal nitric oxide measurement, and ciliary ultrastructure analysis; however, none were available at the district level, so these investigations could not be performed.

FIGURE 1.

Chest XRay (P/A view) showing ring‐like shadow in the lower zone of both lungs, more prominent on the left side.

FIGURE 2.

Xray Skull (OM view) showing absence of both frontal sinuses and moderate opacity in both maxillary sinuses.

Based on the combination of bronchiectasis, chronic sinusitis, dextrocardia, pulmonary hypertension, and hepatic congestion observed in the clinical presentation and supported by available investigations, a diagnosis of Kartagener's Syndrome (KS) with secondary complications was established.

4. Outcome/Management

The patient was managed with a multidisciplinary approach targeting her respiratory, cardiopulmonary, nutritional, and endocrinological complications. Respiratory care focused on maintaining adequate oxygen saturation through oxygen therapy, along with chest physiotherapy to enhance mucus clearance and prevent further lung deterioration. She received antibiotic therapy for recurrent respiratory and sinus infections, as well as bronchodilators and mucolytics to improve airway function and secretion clearance.

Given the presence of pulmonary hypertension and hepatic congestion, diuretics were administered to manage fluid overload and reduce cardiovascular strain. Nutritional and hormonal support was also a key aspect of her care. She received dietary counseling to address potential nutritional deficiencies, along with an endocrinological evaluation for her primary amenorrhea. Hormonal therapy was considered to induce menstruation if necessary.

Additionally, genetic counseling was provided to the patient and her family to educate them on the autosomal recessive inheritance pattern of Kartagener's Syndrome (KS) and its potential reproductive implications. Family members, particularly siblings, were advised to undergo screening for early detection of PCD or associated conditions. The overall treatment plan aimed to alleviate symptoms, prevent disease progression, and enhance the patient's long‐term quality of life.

5. Discussion

Kartagener's Syndrome (KS), a subset of PCD, is a rare autosomal recessive disorder characterized by the classical triad of bronchiectasis, chronic sinusitis, and situs inversus [3]. Similar to the findings of Noone et al. (2004), our patient exhibited the hallmark features of KS, which remained undiagnosed due to a lack of clinical awareness and limited access to specialized diagnostic tools. Delayed diagnosis is a common challenge in low‐resource settings, where KS is frequently misdiagnosed as asthma or tuberculosis [6, 7].

A particularly striking feature in this case was the presence of severe pulmonary hypertension (PASP 70 mmHg) and hepatic congestion, which are less frequently reported complications of KS. Chronic hypoxemia from recurrent infections and mucus plugging has been suggested as a possible mechanism for the development of pulmonary hypertension [10]. In a study by Dai et al. (2022), pulmonary hypertension was noted in a KS patient with prolonged disease progression and delayed treatment, similar to the presentation in this case [11]. The observed hepatic congestion further suggests right heart strain, reinforcing the importance of early diagnosis and management to prevent long‐term cardiopulmonary sequelae [10].

Another notable finding in this case was primary amenorrhea, which is not part of typical KS manifestations. Gea et al. (2018) proposed that chronic hypoxia and malnutrition in chronic respiratory diseases may disrupt the production of anabolic hormones, leading to pubertal delay or menstrual irregularities. Similar findings have been observed in cystic fibrosis and other chronic pulmonary conditions [12].

The management strategies employed in this case, including chest physiotherapy, antibiotics for infections, and bronchodilators, align with established KS treatment protocols [13]. However, for management of pulmonary hypertension and hepatic congestion, only diuretics may not be completely sufficient. In the future, targeted pulmonary vasodilators might be necessary. In low‐resource settings, however, such interventions are often found to be expensive [14].

Another challenge in the diagnosis of this case was the lack of genetic testing, which caused a significant delay in diagnosing KS in our patient. This is a common scenario in developing countries, where access to advanced diagnostic tools is scarce and often leads to misdiagnosis.

6. Conclusion

This case presents a classical yet complex manifestation of Kartagener's Syndrome, accompanied by additional complications including pulmonary hypertension, hepatic congestion, and primary amenorrhea. However, some of these complications—such as pulmonary hypertension and primary amenorrhea—may have alternative contributing causes, including congenital heart disease and hormonal imbalances, which could not be definitively excluded due to limited resources. The delayed presentation and diagnostic constraints underscore the challenges faced in low‐resource settings, highlighting the urgent need for increased clinical awareness and improved access to diagnostic tools.

Author Contributions

Nahid Afsar: conceptualization, data curation, formal analysis, investigation, methodology, project administration, resources, software, supervision, validation, visualization, writing – original draft, writing – review and editing. A. K. M. Zahin: conceptualization, data curation, formal analysis, investigation, methodology, project administration, resources, software, supervision, writing – original draft, writing – review and editing. Md. Habib‐E‐Rasul: conceptualization, data curation, formal analysis, investigation, methodology, project administration, resources, software, supervision, writing – original draft, writing – review and editing. Md. Alfanuzzaman: conceptualization, data curation, formal analysis, investigation, methodology, project administration, resources, software, supervision, writing – original draft, writing – review and editing. A. M. Wadud Al Hasan: conceptualization, data curation, formal analysis, investigation, methodology, project administration, resources, software, supervision, writing – original draft, writing – review and editing.

Consent

Written informed consent was obtained from the patient and her parents for publication of this case report and accompanying data.

Conflicts of Interest

The authors declare no conflicts of interest.

Afsar N., Zahin A. K. M., Habib‐E‐Rasul M., Alfanuzzaman M., and Al Hasan A. M. W., “Kartagener's Syndrome With Complications: Diagnostic Challenges in a Resource‐Limited Setting,” Clinical Case Reports 13, no. 10 (2025): e71064, 10.1002/ccr3.71064.

Data Availability Statement

All data relevant to the study are accessible in from the corresponding author.