Inpatient rehabilitation for adult patients with Marfan syndrome: an observational pilot study.

BACKGROUND: Advances in medical, interventional and surgical treatment have increased average life expectancy of patients with congenital heart defects. As a result a new group of adult patients with congenital cardiac defects requires medical rehabilitation. Patients with Marfan syndrome (MFS) are a relevant group among these patients. So far, no reports on the effectiveness of specialized rehabilitation programmes for MFS patients exist. We implemented an inpatient 3-week rehabilitation program for MFS patients at the Muehlenberg-Clinic for rehabilitation and assessed the medical safety as well as the impact of the program on physical fitness and psychological wellbeing of participants by means of an observational pilot study. The comprehensive multidisciplinary program included medical, physiotherapeutic, psychological and social issues. Two groups including 8 and 10 individuals with verified MFS attended the programme. Medically adverse events that occurred during the rehabilitation were registered. Adverse events were defined as: any new cardiac arrhythmias such as atrial fibrillation, ventricular tachycardia, cardiac syncope or any complications located at the aorta. Psychological assessment was performed using Short Form-36 (SF-36), hospital anxiety and depression scale and other psychometric questionnaires. Medical examinations included assessment of maximum power in bicycle ergometry. All assessments were performed at the beginning and at the end of the rehabilitation. Psychometric assessments were repeated 1 year after the end of the programme for both groups, respectively. RESULTS: Patients were highly satisfied with the programme and improved in almost all psychological and physical fitness assessments. The pre-post-comparison resulted in significant positive changes for mental health (p < .001 for SF-36 Mental Health), fatigue (p < .05 for Fatigue Severity Scale), nociception (p < .05 for SF-36 Pain) and vitality (p < .05 for SF-36 Vitality). Physical fitness improved from admission to discharge (p < .001 for maximum power in bicycle ergometry, p < .05 for maximum nordic walking distance). Considerable improvements persisted through 1 year follow-up. Medical assessments excluded medical problems or adverse events caused by participation in the programme. CONCLUSIONS: In our study, inpatient rehabilitation was both safe and helpful for MFS patients. They benefited in terms of physical fitness, health related quality of life and in terms of psychological wellbeing. An evaluation of the efficacy of the programme in a controlled design as well as further conceptual improvements of our current program is desirable.

Mild aerobic exercise blocks elastin fiber fragmentation and aortic dilatation in a mouse model of Marfan syndrome associated aortic aneurysm.

Regular low-impact physical activity is generally allowed in patients with Marfan syndrome, a connective tissue disorder caused by heterozygous mutations in the fibrillin-1 gene. However, being above average in height encourages young adults with this syndrome to engage in high-intensity contact sports, which unfortunately increases the risk for aortic aneurysm and rupture, the leading cause of death in Marfan syndrome. In this study, we investigated the effects of voluntary (cage-wheel) or forced (treadmill) aerobic exercise at different intensities on aortic function and structure in a mouse model of Marfan syndrome. Four-week-old Marfan and wild-type mice were subjected to voluntary and forced exercise regimens or sedentary lifestyle for 5 mo. Thoracic aortic tissue was isolated and subjected to structural and functional studies. Our data showed that exercise improved aortic wall structure and function in Marfan mice and that the beneficial effect was biphasic, with an optimum at low intensity exercise (55-65% V̇o2max) and tapering off at a higher intensity of exercise (85% V̇o2max). The mechanism underlying the reduced elastin fragmentation in Marfan mice involved reduction of the expression of matrix metalloproteinases 2 and 9 within the aortic wall. These findings present the first evidence of potential beneficial effects of mild exercise on the structural integrity of the aortic wall in Marfan syndrome associated aneurysm. Our finding that moderate, but not strenuous, exercise protects aortic structure and function in a mouse model of Marfan syndrome could have important implications for the medical care of young Marfan patients.NEW & NOTEWORTHY The present study provides conclusive scientific evidence that daily exercise can improve aortic health in a mouse model of Marfan syndrome associated aortic aneurysm, and it establishes the threshold for the exercise intensity beyond which exercise may not be as protective. These findings establish a platform for a new focus on promoting regular exercise in Marfan patients at an optimum intensity and create a paradigm shift in clinical care of Marfan patients suffering from aortic aneurysm complications.

Protrusio acetabuli and total hip arthroplasty in patients with Marfan syndrome.

Our goals were (1) to quantify protrusio acetabuli in patients with Marfan syndrome who underwent total hip arthroplasty and (2) to identify clinical results and complications associated with total hip arthroplasty in those patients. We reviewed the preoperative radiographs of the 29 patients (38 hips) in our study and analyzed the related patient operative reports, postoperative records, and self-administered questionnaires (mean follow-up, 116 ± 102 months). The mean preoperative center-edge angle of Wiberg was 50.9° ± 14°. Loosening (3) and radiolucent lines (4) occurred in femoral but not acetabular components. The hips had 15 complications, including 8 reoperations. High questionnaire scores (82 ± 13 points) indicated good hip function regardless of preoperative protrusio severity.

[Prognosis and percentage of employment after the surgery in Marfan syndrome].

The percentage of employment in the Marfan patient after the Bentall procedure was studied. Eighteen of 20 patients (90%) returned to their daily life and are working well after the surgery. Seven patients (35%) needed the second operation due to the enlargement of false lumen during the follow-up period. Fatal cardiovascular accidents occurred in 7 their families (35%) in our series. Careful follow-up, adequate selection of medical and surgical treatment including second operation, medical examination of their families are important to keep the good quality of life in the Marfan patient.

Marfan syndrome and fibrillin disorders.

Marfan syndrome is the second most common inherited connective tissue disorder after osteogenesis imperfecta. Musculoskeletal abnormalities are at the forefront of the clinical picture and count among the major diagnostic criteria for Marfan syndrome, together with cardiovascular and ocular system involvement. Early diagnosis is of the utmost importance since preventive measures significantly increase life expectancy and prevent the occurrence of impairments and disabilities. Marfan syndrome is due to mutations within the fibrillin-1 gene, which is the main protein of the microfibril network. Microfibrils play a crucial role in the trophicity and function of elastic tissue. Multidisciplinary management of the patients and their families is vital.

Helping to solve problems associated with spina bifida: 1. Presentation of the TRS Project: organizing services for low frequency diagnostic groups and 2. Cognitive deficits often seen in young adults with spina bifida: effects in the school and work place.

1. A Presentation of the TRS Project: Counselling and (Re)habilitation Center. A Model Project in Organizing Services for Low Frequency Diagnostic Groups. Persons with low frequency disabilities often require services from a number of professions. The patient organizations claim that the patients themselves often have to coordinate their own treatment. The TRS project has been established as one of the initiatives under the Norwegian Government's Plan of Action for the Disabled. The project is one of three national projects designed to develop models for the coordination of services for persons with low frequency congenital disabilities. The TRS project deals with the following five diagnoses: Marfan syndrome, arthrogryphosis multiplex congenita, myelomeningocele/spina bifida, osteogenesis imperfecta and congenital limb deficiency. The project is based on patient (user) participation. The five patient organizations are represented on the board where they are in the majority. Patients along with professionals give lectures during group stays. The project offers its services to persons with the diagnosis from all parts of Norway (4.3 mill. inhabitants). Persons with spina bifida over 16 years are included in the project, as well as persons with the other diagnoses at all ages. We present the organization of the project and the repertoire of services that are on offer. 2. Cognitive Deficits Often Seen in Young Adults with Spina Bifida: Effects in the School and Work Place. As survival rates continue to increase with the use of shunting procedures for persons with spina bifida (SB), the need for improved educational and vocational planning also increases. Orbeck and Schanke reported that the cognitive deficits of young adults with SB have not received enough attention in educational and vocational planning. A thorough description of these deficits will aid in developing more effective individualized planning. With improved planning, insight into alternative methods for improving support may also then be investigated. The purpose of this study is to better define and describe the cognitive deficits often encountered while planning support in the school and work place for this group. Neuropsychological examinations are the basis for this description of observed cognitive deficits. The study included 46 young adults with SB aged 15 to 38 living in Norway. All persons were given a neuropsychological test battery which included tests for attention, memory, speed of information processing, visual perception and visual constructive function, arithmetic, fine motor coordination, and verbal functioning. The results indicated deficits in fine motor coordination, speed of information processing, and a slow learning curve. The consequences of these deficits in educational and vocational planning are discussed and guidelines for further studies are suggested.