Abstract
Determining the causative etiology of culture-negative endocarditis can be challenging. We performed next-generation sequencing of plasma microbial cell-free DNA to facilitate rapid diagnosis and genotyping of Coxiella burnetii in a patient with culture-negative endocarditis of a prosthetic pulmonary valve, enabling early targeted treatment prior to valve replacement surgery.
Highlights
Culture-negative endocarditis (CNE) comprises approximately 5%–55% of all cases of infective endocarditis and can be diagnostically challenging [1]
We present a case of CNE where Next-generation sequencing (NGS) of microbial cell-free DNA (mcfDNA) in a patient’s plasma facilitated rapid identification and genotyping of Coxiella burnetii, which was subsequently confirmed by serologic testing and detection of C. burnetii DNA in the explanted cardiac tissue
Kondo et al mcfDNA fragments identified a best match against sequence type (ST) 8 (Supplementary Figure 1), which belongs to genomic Group IV (Figure 1B) as determined by multispacer sequence typing (MST) [7]
Summary
Culture-negative endocarditis (CNE) comprises approximately 5%–55% of all cases of infective endocarditis and can be diagnostically challenging [1]. When severe valvular disease is present, immediate valve replacement surgery may be necessary prior to definitive microbiologic diagnosis or initiation of appropriate antimicrobial therapy. This increases the risk of re-infecting new prosthetic material. A 29-year-old male with 18 months of intermittent fevers, night sweats, and 6 kg weight loss presented to outpatient cardiology He had a history of Tetralogy of Fallot with multiple cardiac surgeries, including Blalock shunt placement at age 7 days followed by repair at 3 years of age, homograft pulmonary valve replacement (PVR) in 2006, and bioprosthetic PVR in 2014. Based on advice from a physician with M. chimaera expertise, we sent the patient’s plasma for NGS of mcfDNA to facilitate rapid and comprehensive diagnosis including evaluation for M. chimaera infection (Figure 1A) [6]
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