Is physical activity a future therapy for patients with Marfan syndrome?

INTRODUCTION: The international recommendations tend to avoid physical activity (PA) for patients with Marfan syndrome (MFS). However, exceptions have recently been made in the most recent recommendations for these patients, suggesting benefits from doing PA at low intensity only. Furthermore, there is no evidence that moderate aerobic or weight training can worsen the disease symptoms and increase mortality of MFS patients. The present review sums up the work carried out in the field of PA and MFS. The review aims to (1) identify the different types of exercise testing and training protocols and (2) discuss the feasibility and potentially beneficial nature of PA as an innovative way to manage MFS patients. METHODS: The scientific literature was reviewed using the following words: Marfan syndrome, training, physical activity, evaluation, weight training, arterial disease, aneurysms, lung damage, aortic dissection, rupture. A total of 345 studies were prospected and 43 studies were included. CONCLUSIONS: A limited number of studies were done in humans, however one demonstrated the feasibility of the management of MFS patients with PA. There were potential beneficial effects of PA on arterial structures, but this review also showed deleterious effects when PA was conducted at high intensities, corresponding to 75-85% of the maximal oxygen uptake. However, these effects have only been reported in animal studies.

Effects of a personalized home-based training program among patients suffering from Marfan syndrome: a pilot randomized and controlled study.

Marfan syndrome (MFS) is an autosomal hereditary pathology affecting 1:5000 peoples. Alteration of the fibrillin 1 gene (FBN1) results in haplo-insufficiency of the FBN1 protein mainly altering the vascular system. International recommendations have gradually allowed MFS patients to perform training programs because of its potential benefits. However, to date, there are no data on the effect of a long training period in these patients. The aim of the present study is to investigate the effect of a 3-month personalized home-based training on quality of life (QoL) of patients suffering from MFS. At least 50 MFS patients were included in the study. They were randomly placed into 4 groups: control group; endurance; resistance and endurance + resistance training groups. The training program lasted 3 months and is performed at patients' home. There were 2 training sessions per week telemonitored by a specialist of physical activity and cardiology. Pre and post-training evaluations were performed at the Bichat-Paris Hospital, France. They consisted of assessing psychometrics based on self-administered questionnaires (FiRST, GPAQ, ISP-25, MOS SF-36) and physiological parameters such as the peak oxygen consumption, aorta diameter, cardiac ventricle function and skeletal muscle power at rest and during exercise. Our preliminary results showed an improvement of 50% in QoL, cardiorespiratory fitness and skeletal muscle power in a patient who completed the combined training program. This experimental approach might be a new alternative way for MFS patients' care that may improve their QoL, cardiorespiratory fitness and skeletal muscle power.

Marathon-Induced Cardiac Fatigue: A Review over the Last Decade for the Preservation of the Athletes' Health.

AIM: To provide a state-of-the-art review of the last 10 years focusing on cardiac fatigue following a marathon. METHODS: The PubMed, Bookshelf and Medline databases were queried during a time span of 10 years to identify studies that met the inclusion criteria. Twenty-four studies focusing only on the impact of marathons on the cardiac function and factors involved in cardiac fatigue were included in this review. RESULTS: Sixteen studies focused on the impact of marathons on several biomarkers (e.g., C-reactive protein, cardiac troponin T). Seven studies focused on the left (LV) or right (RV) ventricular function following a marathon and employed cardiac magnetic resonance, echocardiography, myocardial speckle tracking and heart rate variability to analyze global and regional LV or RV mechanics and the impact of the autonomic nervous system on cardiac function. One study focused on serum profiling and its association with cardiac changes after a marathon. CONCLUSIONS: This review reported a negligible impact of marathons on LV and RV systolic and contractile function but a negative impact on LV diastolic function in recreational runners. These impairments are often associated with acute damage to the myocardium. Thus, the advice of the present review to athletes is to adapt their training and have a regular medical monitoring to continue to run marathons while preserving their cardiac health.