Abstract
Background/Objectives: Thoracic aortic aneurysms (TAAs) are potentially life-threatening medical conditions, and their etiology involves both genetic and multiple risk factors. Coxiella burnetii endocarditis is one of the most frequent causes of blood culture-negative infective endocarditis (BCNIE) in patients with previous cardiac surgery. Our review aims to emphasize the importance of genetic testing in patients with thoracic aortic aneurysms but also the importance of additional testing in patients with suspected endocarditis whose blood cultures remain negative. The reported case has a history of acute DeBakey type I aortic dissection that developed during her second pregnancy, for which the Bentall procedure was performed at that time. Ten years after the surgery, the patient started developing prolonged febrile syndrome with repeatedly negative blood cultures, the serological tests revealing the presence of an infection with Coxiella burnetii. Considering her family history and the onset of her aortic pathology at a young age, genetic tests were performed, disclosing a missense variant in the actin alpha-2 (ACTA2) gene in heterozygous status. Methods: For a better understanding of both conditions, our research was conducted in two directions: one reviewing the literature on patients with Coxiella burnetii BCNIE and the other focusing on patients who had a familial thoracic aortic aneurysm (FTAA) due to the ACTA2 variant. This review incorporates studies found on PubMed and ResearchGate up to August 2024. Conclusions: BCNIE represents a condition with several diagnostic challenges and may lead to severe complications if timely treatment is not initiated. Also, diagnosing an FTAA requires genetic testing, enabling better follow-up and management.