Although radiological studies suggest that Marfan syndrome is associated with osteopenia, investigations utilizing measurements of bone mass have yielded conflicting results. To address this question further, we measured bone mineral density (BMD) in 14 women with Marfan syndrome at the right hip and lumbar spine by dual energy X-ray absorptiometry (DXA). Results were compared with the age- and weight-matched reference population supplied by the DXA manufacturer, and with our own control population of normal women, the latter being matched for height, in addition to age and weight. We found that BMD was very similar in our Marfan women as compared with the two reference populations, at the lumbar spine and femoral neck, while trochanteric BMD was reduced. However, the relationship between an isolated reduction in trochanteric BMD and future fracture risk is unclear, and, on the basis of our results, we conclude that Marfan syndrome is not associated with a clinically significant increase in the risk of osteoporotic fracture.

Objective Marfan syndrome (MS) is a multisystem disorder caused by a mutation in FBN1 gene. It shares some phenotypic features with hypermobile Ehlers-Danlos syndrome (EDS) such as joint hypermobility. EDS is a group of inherited heterogenous multisystem disorders characterized by skin hyperextensibility, atrophic scarring, joint hypermobility, and generalized tissue fragility. Hypermobile EDS (hEDS) is thought to be the most common type. Recent studies have suggested an association between connective tissue hypermobility and functional gastrointestinal disorders (FGDs). The aim of this study is to determine the prevalence of gastrointestinal symptoms in patients with Marfan syndrome and hypermobile EDS. Method Patients with a diagnosis of either MS or hEDS attending cardiology or rheumatology outpatients at our hospital were asked to complete SF36 RAND and Rome IV Diagnostic questionnaires. Questionnaires were also completed by patients who are members of Marfan Association UK. The same questionnaires were also completed by age- and gender-matched controls attending fracture clinic without existing diagnoses of MS or hEDS. Results Data were collected from 45 MS patients (12 males and 33 females, age range 19–41 years, mean 28 years) and 45 hEDS patients (6 males and 39 females, age range 18–32 years, mean 24 years). None had a previous organic gastrointestinal diagnosis. The control group was matched for age and sex (18 males and 72 females, age range 18–45, mean 29 years). Both MS and hEDS groups showed a higher prevalence of abdominal symptoms compared to the control group; however, the hEDS group not only showed a higher prevalence but more frequent and severe symptoms meeting Rome IV criteria for diagnosis of FGIDs. Nearly half of the hEDS patients met the criteria for more than one FGID. The hEDS group also scored lower on quality of life (QOL) scores in comparison to either of the other groups with a mean score of 48.6 as compared to 54.2 in the Marfan group and 78.6 in the control group. Conclusion FGIDs are reported in both Marfan syndrome and hypermobile Ehlers-Danlos syndrome but appear to be more common and severe in hEDS. These patients score lower on quality of life scores as well despite hypermobility being a common feature of both conditions. Further work is needed to understand the impact of connective tissue disorders on gastrointestinal symptoms.

Introduction Studies suggest there is an increased prevalence of aortic root dilation highly trained competitive athletes. It is unclear whether this is a benign feature of 'athlete's heart' or an indication of a pathological condition. However, distinguishing between the two may be important in the prevention of exercise related sudden cardiac death. This study sought to investigate the prevalence of aortic root dilation in British competitive athletes. Methods Between 2004 and 2012, 1165 athletes (63% male, 81% Caucasian, mean age 20.9±6.0 years, range 14-35 years) underwent echocardiography. Aortic root dimensions, measured at sinus of valsalva level, were analysed to ESC guidelines and were compared to current Bathesda recommendations of ≥40 mm for both male and female athletes. Results were compared to 415 healthy controls (57% male, 60% Caucasian, mean age 22.1 ±6.4 years, range 14-35 years) and 50 patients with Marfan syndrome (54% male, 88% Caucasian, mean age 35.6±12.6 years, range 18-68 years).Results Male athletes and controls demonstrated a similar prevalence of aortic root dimension (27.9±4.2 mm, range: 17-52 mm vs 27.9±4.0 mm, range: 19¨C 38 mm; p=1.000). However, seven male athletes (1.0%) had an aortic root ≥40 mm, compared to 0% male controls ( p 0.2053). Male Marfan patients demonstrated a higher prevalence of aortic root dilation than male athletes (40.9 mm±4.6 mm; p<0.0001) and 22 male Marfan patients (81.5%) had an aortic root ≥40 mm.Female athletes demonstrated a similar prevalence of aortic root dimension to female controls (26.1±3.3 mm vs 25.8±3.6; p 03207). One female athlete (0.2%) had an aortic root ≥ 40 mm compared to 0% female controls ( p=1.000). Female Marfan patients had a higher prevalence of aortic root dilation than female athletes (36.8 ±4.7 mm vs 26.1±3.3 mm; p<0.0001) and 17 female Marfan patients (73.9%) had an aortic root ≥34 mm.On longitudinal follow up of 5 years, none of the athletes with aortic dilation alone required surgical intervention. Conclusions Athletes exhibited a similar prevalence of aortic root dilation to healthy controls and there is no statistically significant evidence to suggest aortic root dilation is a feature of 'athlete's heart'. However, Marfan's patients were found to have a far greater proportion of pathologically wide aortic of ≥40 mm. The study would benefit from further longitudinal evaluation.

Symptoms attributed to the gastrointestinal manifestations of multisystem disorders play an important role in the long-term management of these conditions. Gastrointestinal complications of a variety of connective tissue disorders have been studied and there is an increased interest in the incidence and prevalence of these symptoms. Descriptions of the occurrence of gastrointestinal complications in Marfan syndrome have appeared infrequently in the medical literature. In this review article we focus on both structural and functional gastrointestinal pathology that may occur in patients with Marfan syndrome.

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