Abstract
Introduction: Marfan syndrome (MFS) is an autosomal dominant genetic disorder, caused by a mutation in the FBN-1 gene, affecting the cardiovascular, musculoskeletal, ocular, and central nervous systems. Cardiovascular abnormalities associated with MFS lead to different pathological conditions, such as cardiac arrhythmias, coronary artery disease, and aortic dilatation. The latter are the primary causes of mortality in MFS patients. To date, the role of altered oral microbiota (OM) in MFS is unknown, and so the aim of our study was to determine whether there are differences in the oral microbiota of MFS patients with aortic dilatation and non-dilatation. Methods: We enrolled 36 MFS patients, who were divided into groups with aortic non-dilatation (n = 12) and with aortic dilatation (n = 24). Dental plaque samples were used for OM analysis, and serum was used for cytokine evaluation. Results: The main genera were compared between patients with aortic dilatation and non-dilatation, revealing three genera with significant differences: Actinomyces (p = 0.007) and Rothia (p = 0.002) were more abundant in those with aortic dilatation, while Fusobacterium (p = 0.044) was more abundant in non-dilatation patients. However, no significant differences in cytokine levels were observed between the presence and absence of aortic dilatation, except that the IL-1β levels were higher in non-dilatation patients (165.09 pg/mL) than in those with dilatation (117.15 pg/mL), with a significance of p = 0.057. Conclusions: This study represents the initial, tentative pilot study to understand the relationship between oral health and systemic conditions in patients with Marfan syndrome.