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Updated: May 29, 2025
The Development of Lyophilized Loop-mediated Isothermal Amplification Reagents for the Detection of Coxiella burnetii
Published on: April 18, 2016
Diagnosis of Coxiella burnetii endocarditis by using nanopore targeted sequencing: a case report
Xinsheng Yan1, Qimei Wei2, Tingting Liu3
1Department of Clinical Laboratory, Wuhan Asia General Hospital Affiliated to Wuhan University of Science and Technology, Wuhan, 430056, China.
Background:
Infective endocarditis (IE) can be caused by a variety of pathogens, including bacteria, fungi, and atypical pathogens. The diversity of IE manifestations contributes to diagnostic uncertainty, which can lead to missed diagnoses and inappropriate treatment. Diagnosing Coxiella burnetii endocarditis is particularly challenging, as routine blood cultures often yield negative results and echocardiography seldom reveals vegetations. In recent years, the rapid development of sequencing technology provides a new direction for the diagnosis of IE.
Case Presentation:
The present study reports the case of a 57-year-old male patient who was admitted with a diagnosis of severe aortic stenosis. Cardiac computed tomography (CT) angiography revealed a diastolic aortic valve malformation with significant leaflet thickening, calcification and pseudoaneurysm formation, the etiology of which was considered to be due to infectious possibilities. Although clinical suspicion of infective endocarditis was raised, since echocardiogram did not reveal any vegetations and blood cultures were negative, the etiology remained unclear and empirical drug therapy was used. The patient exhibited a severe inflammatory reaction after aortic valve replacement. Samples were sent for pathogenic testing again, including blood cultures and blood nanopore targeted sequencing (NTS). The other tests were all negative, only the NTS detected C. burnetii. After further confirmation, the final diagnosis was C. burnetii infective endocarditis. The patient was subsequently discharged from the hospital after demonstrating improvement with targeted treatment. One month post-discharge, a follow-up examination indicated that he had recovered well.
Conclusion:
This case study demonstrates the accurate diagnosis and treatment of C. burnetii endocarditis through NTS analysis of blood samples. As a novel technology, NTS may play an important role in the diagnosis of culture-negative infections caused by unidentified pathogens.
Insights
Diagnosing Coxiella burnetii endocarditis is challenging. Nanopore targeted sequencing (NTS) accurately identified C. burnetii in a culture-negative case, enabling targeted treatment and recovery.
Area of Science:
- Infectious Diseases
- Cardiology
- Genomics
Background:
- Infective endocarditis (IE) presents diverse manifestations, complicating diagnosis and treatment.
- Coxiella burnetii endocarditis is particularly difficult to diagnose due to negative blood cultures and lack of echocardiographic findings.
- Advancements in sequencing technology offer new diagnostic avenues for IE.
Purpose of the Study:
- To report a case of Coxiella burnetii endocarditis diagnosed using nanopore targeted sequencing (NTS).
- To highlight the utility of NTS in identifying culture-negative infections.
Main Methods:
- A 57-year-old male with severe aortic stenosis and suspected IE underwent cardiac CT angiography.
- Despite negative blood cultures and echocardiogram, NTS of blood samples was performed.
- The patient received empirical therapy, followed by targeted treatment after NTS results.
Main Results:
- Cardiac CT revealed aortic valve abnormalities suggestive of infection.
- Nanopore targeted sequencing (NTS) uniquely detected Coxiella burnetii in blood samples.
- Targeted treatment based on NTS results led to patient improvement and recovery.
Conclusions:
- Nanopore targeted sequencing (NTS) enabled accurate diagnosis of Coxiella burnetii endocarditis.
- NTS is a valuable tool for diagnosing culture-negative infections with unidentified pathogens.
- This case underscores the potential of NTS in managing challenging IE cases.
