Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease.

Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features.Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive- and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction.Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome.

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.

The role of the multidisciplinary health care team in the management of patients with Marfan syndrome.

Marfan syndrome (MFS) is a rare, severe, chronic, life-threatening disease with multiorgan involvement that requires optimal multidisciplinary care to normalize both prognosis and quality of life. In this article, each key team member of all the medical disciplines of a multidisciplinary health care team at the Hamburg Marfan center gives a personal account of his or her contribution in the management of patients with MFS. The authors show how, with the support of health care managers, key team members organize themselves in an organizational structure to create a common meaning, to maximize therapeutic success for patients with MFS. First, we show how the initiative and collaboration of patient representatives, scientists, and physicians resulted in the foundation of Marfan centers, initially in the US and later in Germany, and how and why such centers evolved over time. Then, we elucidate the three main structural elements; a team of coordinators, core disciplines, and auxiliary disciplines of health care. Moreover, we explain how a multidisciplinary health care team integrates into many other health care structures of a university medical center, including external quality assurance; quality management system; clinical risk management; center for rare diseases; aorta center; health care teams for pregnancy, for neonates, and for rehabilitation; and in structures for patient centeredness. We provide accounts of medical goals and standards for each core discipline, including pediatricians, pediatric cardiologists, cardiologists, human geneticists, heart surgeons, vascular surgeons, vascular interventionists, orthopedic surgeons, ophthalmologists, and nurses; and of auxiliary disciplines including forensic pathologists, radiologists, rhythmologists, pulmonologists, sleep specialists, orthodontists, dentists, neurologists, obstetric surgeons, psychiatrist/psychologist, and rehabilitation specialists. We conclude that a multidisciplinary health care team is a means to maximize therapeutic success.

[Analysis of costs and profits of ambulatory care of Marfan patients after initiation of a novel German legal directive (116 b SGB V)]. / Analyse der Erlössituation bei der ambulanten Behandlung nach 116 b SGB V am Beispiel des Marfan-Syndroms.

BACKGROUND: The Marfan syndrome is a typical rare disease with multiorgan involvement and the need for specialized interdisciplinary medical care. A novel German legal directive according to section sign 116 b of the Social Statutes Book V (116 b SGB V) improves options for reimbursement and thus encourages specialized hospitals to provide ambulatory care for rare diseases such as Marfan syndrome. The authors provide the first economic analysis of section sign 116 b in a German Marfan center. METHODS: The costs were assessed in 184 cases with Marfan syndrome receiving medical care in the Hamburg Marfan Clinic. The authors assessed the financial profit both according to payments received from invoices established according to the 116 b directive [reimbursement (116b)] and from calculations according to section sign 117 SGB V [reimbursement (117)]. RESULTS: A total of 117 patients traveled to the Marfan clinic (64%) < 50 km, 27 patients (15%) between >or= 50 and 100 km. The total costs for ambulatory care were 71,606.28 Euro. The reimbursement (116b) was 55,549.87 Euro and the reimbursement (117) was 11,776.00 Euro. CONCLUSION: Many patients accept long distances of traveling to receive specialized ambulatory medical care. However, for optimal patient management specialized centers need to cooperate intensively with local health care providers. The novel legal directive according to section sign 116 b has significantly improved reimbursement for Marfan centers and allows for improving the quality of medical care.