Marfan syndrome (MFS), firstly described in 1896 by Antoine-Bernard Marfan [1], is an autosomal dominant disorder affecting the connective tissues. The prevalence of Marfan syndrome is 1 per 5,000 [2]. Mutations in the fibrillin-1 gene on chromosome 15 are responsible for alterations of the glycoprotein fibrillin-1, a major component of the 10–12 nm microfibrils present in the connective tissue matrices [2, 3]. These microfibrils, together with elastin form the elastic fibers found in various tissues, including the suspensory ligament of the lens, skeletal system, lungs, blood vessel walls, and the skin [4]. Thus, MFS is a multisystemic disease where localization and degree of symptoms are individually different. Some clinical manifestations are characteristic for MFS, e.g., a positive wrist sign (Figure 1), tall stature, aortic dissection, mitral valve prolapse, and ectopia lentis [5]. Cardiovascular complications, especially aortic dissection or ruptures, are the major cause of morbidity and mortality [5, 6]. Although genetic tests are available, the diagnostic criteria of the current Ghent nosology still require clinical manifestations for final diagnosis [7]. In addition to the aforementioned multisystemic manifestations, MFS exhibits characteristic oral features including maxillary protrusion, high palate (Figure 2A), crowded teeth (Figure 2B), and fragility of the temporomandibular joint [8, 9].

Only scarce data are available about periodontal conditions in patients with MFS. Except for De Coster et al.[10] all publications are case reports [11–13]. Periodontal manifestations, a higher prevalence of gingivitis and/or periodontitis in patients with MFS may be considered because of the high concentration of elastic fibers in the periodontal ligament. Gingivitis and periodontitis are chronic inflammatory diseases of the tooth supporting tissues (periodontium) caused by bacteria of the oral cavity that accumulate on the teeth thus forming a biofilm [14]. The prevalence of gingivitis in the western populations is almost 75%. Approximately 30% of adults in the United States reveal moderate forms of periodontitis and 10% of the US-population is affected by severe forms of this disease [15]. Bacterial biofilm is the primary risk factor of gingivitis and periodontitis. But there are secondary genetic and so called alterable (patient-specific) risk factors as well, which affect host specific immune response and metabolism of the tooth supporting tissues [16]. These risk factors can be summarized as ‘susceptibility factors’ to periodontitis.

Therefore, the objective of the present case control study was to analyze if the mutated elastic fibers and the extracellular matrix metabolism and composition changes in the periodontal ligament in patients suffering from MFS may increase the susceptibility to periodontitis: The question which was to be answered was do patients with MFS reveal significantly more periodontal damage and inflammation signs? The hypothesis that was set forth was that patients with MFS have a higher prevalence of periodontitis.

In accordance with the Declaration of Helsinki, the present study was approved by the Ethical Committee of Hannover Medical School (No. 5113) and the Ethical Committee of the Medical Association of Hamburg (No. MC-120/10). The study was designed as a multicenter case control study.

A total of 82 patients, 51 patients with MFS (30 female and 21 male, mean age: 40.20 ± 15.35 years) and 31 controls (17 female and 14 male, mean age: 40.29 ± 13.94 years), were examined.

Systemic manifestations and clinical characteristics of patients with MFS are well described by various authors. Data about oral manifestations of MFS such as maxillary protrusion, high palate, narrowed arch, crowding of the teeth, and fragility of the temporomandibular joint are consistent [8, 9]. However, to date there is no data available in the dental/medical literature demonstrating a higher prevalence of periodontitis or more severe types of periodontitis in Marfan patients. Overall, various authors documented a higher prevalence of periodontitis in Marfan patients [12, 21, 22]. These studies always refer to reports published by Straub et al.[11] or De Coster et al.[10]. However it needs to be considered that Straub et al. reported only one case of severe periodontitis in MFS and De Coster et al. did not analyse the prevalence of periodontitis but only gingival inflammations. Therefore, the present study analysed for the first time the association of MFS with the prevalence and severity of periodontitis with an all-time sample size.

Firstly, our data do not indicate more periodontal damage, a higher prevalence or more severe forms of periodontitis in patients with MFS. Mean CAL and PSI were almost similar in the Marfan group compared to the sound controls. Several case reports [11–13] presented Marfan patients with gingival or periodontal abnormalities. In particular, Straub et al.[11] documented one case of MFS with severe periodontitis. But it must be kept in mind that the cause of attachment loss is multifactorial. Beside patient-specific risk factors like smoking, oral hygiene, nutrition, obesity, etc. there are patients with a genetic predisposition, which is up to now not well understood [23–26]. For example, ethnical origin may be an important risk factor. Africans suffer more frequently from so called aggressive forms of periodontitis [24]. Therefore, it may be concluded that a genetic predisposition and/or patient-specific periodontal risk factors independent from MFS may have been responsible for the severe periodontitis in the patient presented by Straub et al.[11].

Secondly, our data do not reveal significant differences rather than a slight tendency of more periodontal inflammation in Marfan patients compared to the control group. De Coster et al. [10] investigated 23 Marfan patients and compared dental and gingival conditions with 69 sound control patients. According to the results of the present study, De Coster et al. revealed more periodontal inflammation in Marfan patients compared to the control group (Gingiva Index in the Marfan group: 1.9 vs. 1.0 in the control group). However, De Coster et al. used a less reproducible index called Gingiva Index, which only assesses gingival inflammation signs by inspection. While interpreting the higher degree of inflammation, one has to keep in mind that Marfan patients suffer more frequently from a crowding of the teeth compared to sound persons. Crowded teeth are much more difficult to clean during patient’s oral hygiene. Thus, plaque accumulation and consequently periodontal inflammation is much more pronounced. Therefore, the higher degree of inflammation in patients with MFS may have been the result of crowded teeth.

Thirdly, the results of the dental examination revealed no elevated numbers of decayed, missing or filled teeth in the Marfan group compared to the control group. DMF-T and DMF-S were almost identical in both groups. This is confirmed by De Coster et al.[10], who also did not find significant differences between the mean DMF-T in 23 Marfan patients compared to 69 controls.

The analysis of the questionnaire revealed a relatively high prevalence of disorders of the temporomandibular joint, which is in accordance with other studies [8, 9, 27, 28]. For instance, Bauss et al.[9] documented that 51.6% of 281 Marfan patients suffered from disorders of the temporomandibular joint. Westling et al.[8] reported a prevalence of 54% in 76 Marfan patients. Therefore, the temporomandibular joint is one of the main maxillofacial structures that are affected by the MFS. It may be concluded that orthodontic or skeletal anomalies like maxillary protrusion, high palate, or crowded teeth are responsible for the relatively high frequency of orthodontic treatment in Marfan patients due to our study (62%) and previous investigations [8, 19]. De Coster et al.[10] analysed kephalometric data in 26 Marfan patients. They concluded based on their data that the need for orthodontic treatment in patients with MFS is significantly higher to sound controls.

Although the present study did not demonstrate a higher susceptibility to periodontitis and revealed only a slight tendency of more periodontal inflammation in patients with MFS one has to consider the increased risk for developing endocarditis in Marfan patients [6]. The higher risk for endocarditis is not the result of the disease but the consequence of a prosthetic valve or other prosthetic materials that are implanted in patients with MFS in order to treat cardiovascular complications. Therefore, an adequate dental monitoring and regular professional cleaning are recommended because of the higher number of patients with prosthetic valves suffering from Marfan syndrome.

Based on our data, patients with Marfan syndrome do not suffer from more decayed, missing or filled teeth. The prevalence of disorders of the temporomandibular joint seems to be higher in Marfan patients then in patients without MFS. MFS patients do not reveal more periodontal damage, a higher prevalence of periodontitis or suffer more frequently from severe forms of periodontitis (e.g. aggressive periodontitis). It may be concluded that the mutation associated with MFS does not predispose the periodontal ligament to a higher susceptibility to periodontitis. Further, crowded teeth may be the reason for a slight tendency towards more periodontal inflammation in Marfan patients. Taken together, it is recommended that Marfan patients should receive a professional oral hygiene on a regular basis due to their increased risk of endocarditis based on the high number of Marfan patients with prosthetic heart valves.