The Impact of Pregnancy in Patients with Thoracic Aortic Disease: Epidemiology, Risk Assessment, and Management Considerations.

Thoracic aortic disease (TAD) poses substantial risks during pregnancy, particularly for women with genetic conditions such as Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome. This review examines the epidemiology, risk assessment, and management of TAD in pregnancy. Preconception counseling is vital considering the hereditary nature of TAD and potential pregnancy-related complications. Genetic testing and imaging surveillance aid in risk assessment. Medical management, including beta-blockade and strict blood pressure control, is essential throughout pregnancy. Surgical interventions may be necessary in certain cases. A multidisciplinary approach involving cardiologists, obstetricians, cardiac surgeons, anesthesiologists, and other specialists with expertise in cardio-obstetrics is essential for optimal outcomes. Patient education and shared decision-making play vital roles in navigating the complexities of TAD in pregnancy and improving maternal and neonatal outcomes.

Interprofessional collaboration in the cardiovascular management of Marfan syndrome: A qualitative study based on interviews with professionals.

BACKGROUND AND AIM: Patients with Marfan syndrome, who present with a variety of symptoms and complex psychosocial problems, require interprofessional collaboration in their care. However, it is unclear how health care providers contribute to interprofessional collaboration for these patients. The purpose of this study was to determine the characteristics of interprofessional collaboration for patients with Marfan syndrome in the cardiovascular field. METHODS: Semi-structured interviews were conducted with health care specialists (5 physicians, 2 nurses, and 3 certified genetic counselors) were analyzed qualitatively. RESULTS: Based on the medical collaboration for the management of cardiovascular complications in patients and their relatives, interprofessional collaboration was identified, such as collaboration and cooperation between physicians and certified genetic counselors, and nursing practice to facilitate interprofessional collaboration. In addition, issues such as difficulties in dealing with and coordinating medical care for noncardiovascular complications, lack of specialist physicians, and lack of opportunities to collaborate with nurses were identified. CONCLUSIONS: Effective interprofessional collaboration requires the acquisition of Marfan syndrome and genetic knowledge by healthcare providers and the development of a healthcare delivery system based on departments that can provide leadership. In addition, the assignment of nurses to work across organizational boundaries and effective collaboration between genetic counselors and nurses should be considered.

Perceived burden in dealing with different rare diseases: a qualitative focus group study.

OBJECTIVES: There are more than 6000 heterogeneous rare diseases and little is known about shared experiences of affected individuals in everyday life and healthcare. Objective of this study was to explore perceived burden of patients with rare chronic diseases and identify commonalities and differences in the experiences of patients with four heterogeneous conditions. DESIGN: A qualitative focus group study. SETTING: In four separate and diagnostically homogeneous focus groups, we asked patients about the perceived burden of living with their rare disease. The focus groups took place at a university medical centre in Germany. PARTICIPANTS: Individuals with neurofibromatosis type 1 (n=4), primary sclerosing cholangitis (n=5), pulmonary arterial hypertension (n=4) and Marfan syndrome (n=5). RESULTS: We identified five main themes: medical problems, psychological burden, problems with the healthcare system, constraints and interpersonal problems. While medical problems differed widely between the diagnostic groups, patients with different conditions independently reported many common problems including psychological burden, constraints in professional, personal and daily life, stigmatisation and others lacking understanding. Shared problems pertaining to the healthcare system seem related to the rarity of the conditions (eg, limited access to adequate care, lack of knowledge). CONCLUSIONS: Despite clinical heterogeneity of rare diseases, affected individuals have many common experiences. Some of these experiences may resemble the burden of living with a chronic disease. However, patients reported aspects, which seem to be specific for rare chronic diseases. Generic interventions targeting shared burdens among patients with different diseases could provide adequate treatment in light of finite healthcare resources.

Economic and care considerations of Marfan syndrome.

INTRODUCTION: Marfan syndrome is a rare multisystem disease of the connective tissue, which affects multiple organ systems. advances in healthcare have doubled the life-expectancy of patients over the past three decades. to date, there is no comprehensive review that consolidates economic considerations and care for marfan patients. Areas covered: Present research suggests that there may be a link between treatment pattern, disease progression and economic costs of Marfan syndrome. It indicates that an early detection of the disease and preventive interventions achieve a dual aim. From a patient perspective, it may reduce the amount of emergency surgery or intervention, and inpatient stays. In addition, it slows disease progression, lowers lifestyle restrictions, reduces psychological stress, and improves health-related quality of life. Expert commentary: Early detection and preventive measures are likely to achieve a dual aim by simultaneously containing costs and reducing the number and length of inpatient stays.

The influence of regional health care structures on delay in diagnosis of rare diseases: the case of Marfan Syndrome.

INTRODUCTION: This study investigates the relative influence of the regional availability of health care resources (measured by physician densities, number of health care centers) on health care quality (measured by delay in diagnosis), based on data for the rare disease Marfan Syndrome. METHODS: Administrative data from 389 patients with Marfan Syndrome were analyzed. Logistic regression models were applied for a dichotomous comparison of the dependent variable 'time to diagnosis' with the classifications 'immediate' and 'late' diagnosis. Physician densities of cardiologists/angiologists, ophthalmologists, orthopedists, and GPs, as well as distance to medical health care centers and sociodemographic information were entered into the models. RESULTS: The results showed that the relationship between physician densities and probability of immediate diagnosis of Marfan Syndrome is negative linear, and quadratic for cardiologists/angiologists. This effect was significant with respect to density of cardiologists/angiologists (p=0.0097). Distance to medical health care centers was not a predictor of an immediate diagnosis. CONCLUSION: Marfan Syndrome faces significant problems of quality of health care, as although the requisite quantity of health care resources is available, this does not affect delay in diagnosis. Information technology might foster valuable networking among physicians treating such cases along with holistic assessment of symptoms as they occur.

Anthropometric and musculoskeletal assessment of patients with Marfan syndrome.

BACKGROUND: Marfan syndrome (MS) is an autosomic dominant condition of the connective tissue that involves the ocular, cardiovascular and musculoskeletal systems. MS is caused by mutations in the fibrillin-1 gene, leading to joint ligaments flaccidity, joint hypermobility and an overgrowth of the long bones. OBJECTIVES: The aim of the present study was to assess anthropometry, musculoskeletal alterations and the prevalence of physical therapy treatments among patients with MS. METHODS: Twenty-six patients were included in this study [17 females (age: 13.23±2.77 years; body mass 51.5±24-68 Kg; height 1.70±1.40-1.81 m; arm span: 1.73±0.12 m) and 9 males (age: 14.44±2.18; body mass: 61.0±42-72 Kg; height: 1.83±1.66-1.97 m; arm span: 1.93±0.13 m)]. Anthropometric measurements and musculoskeletal abnormalities were determined in a standardized fashion: pectus and scoliosis were assessed through radiography and angulation (â) of the scoliosis curve using the Cobb method; arachnodactyly was assessed through the thumb sign and Walker-Murdoch test and dolichostenomelia was assessed by arm span in relation to height. Patients also responded to a questionnaire addressing participation in physical therapy. RESULTS: In comparison to values estimated for the Brazilian population, mass and height were greater among the patients with MS (females: p=0.001 e p<0.0005 e males p=0.019 e p=0.0001, respectively). The following musculoskeletal abnormalities were found: pectus in 3 patients (11%), pectus and scoliosis in 19 (73%), dolichostenomelia in 11 (42%) and arachnodactyly in 21 (80%). Eleven patients (42%) with MS had previously undergone physical therapy. CONCLUSIONS: Patients with MS exhibit altered musculoskeleto and anthropometry and have infrequent physical therapy treatment.

Avaliação antropométrica e musculoesquelética de pacientes com síndrome de Marfan / Anthropometric and musculoskeletal assessment of patients with Marfan syndrome

CONTEXTUALIZAÇÃO: A Síndrome de Marfan (SM) é uma doença autossômica dominante do tecido conjuntivo que envolve os sistemas ocular, cardiovascular e musculoesquelético, causada por mutações no gene da fibrilina1, gerando flacidez nos ligamentos articulares, favorecendo a hipermobilidade articular e redução na contenção do crescimento ósseo. OBJETIVOS: Avaliar as medidas antropométricas, alterações musculoesqueléticas e a frequência do tratamento fisioterapêutico nos pacientes com SM. MÉTODOS: Participaram deste estudo 26 pacientes, sendo 17 do gênero feminino, com idade de 13,23±2,77 anos, massa corpórea de 51,5±24-68 Kg, altura de 1,70±1,40-1,81 m e envergadura de 1,73±0,12 cm, e nove do gênero masculino, com idade de 14,44±2,18, massa corpórea de 61,0±42-72 Kg, altura de 1,83±1,66-1,97 m e envergadura de 1,93±0,13. Foram obtidas medidas antropométricas, alterações ME de forma padronizada, sendo o pectus e a escoliose, por avaliação radiológica, e a angulação (â) da curva escoliótica, pelo método de Cobb; a aracnodactilia, pelo sinal do polegar e teste de Walker-Murdoch, e a dolicostenomelia, pela envergadura em relação à altura. Os pacientes responderam a um questionário quanto à participação em tratamento de fisioterapia. RESULTADOS: Quando comparados com a estimativa brasileira, a massa corpórea e a altura apresentaram valores maiores no gênero feminino (p=0,001 e p<0,0005) e masculino (p=0,019 e p=0,0001). Das alterações musculoesqueléticas, encontrou-se pectus em 3 (11 por cento), pectus e escoliose em 19 (73 por cento), dolicostenomelia em 11 (42 por cento) e aracnodactilia em 21(80 por cento). Onze (42 por cento) pacientes com SM já haviam realizado tratamento de fisioterapia. CONCLUSÕES: As alterações antropométricas e musculoesqueléticas estão presentes na SM, e o tratamento fisioterapêutico é pouco frequente.

BACKGROUND: Marfan syndrome (MS) is an autosomic dominant condition of the connective tissue that involves the ocular, cardiovascular and musculoskeletal systems. MS is caused by mutations in the fibrillin-1 gene, leading to joint ligaments flaccidity, joint hypermobility and an overgrowth of the long bones. OBJECTIVES: The aim of the present study was to assess anthropometry, musculoskeletal alterations and the prevalence of physical therapy treatments among patients with MS. METHODS: Twenty-six patients were included in this study [17 females (age: 13.23±2.77 years; body mass 51.5±24-68 Kg; height 1.70±1.40-1.81 m; arm span: 1.73±0.12 m) and 9 males (age: 14.44±2.18; body mass: 61.0±42-72 Kg; height: 1.83±1.66-1.97 m; arm span: 1.93±0.13 m)]. Anthropometric measurements and musculoskeletal abnormalities were determined in a standardized fashion: pectus and scoliosis were assessed through radiography and angulation (â) of the scoliosis curve using the Cobb method; arachnodactyly was assessed through the thumb sign and Walker-Murdoch test and dolichostenomelia was assessed by arm span in relation to height. Patients also responded to a questionnaire addressing participation in physical therapy. RESULTS: In comparison to values estimated for the Brazilian population, mass and height were greater among the patients with MS (females: p=0.001 e p<0.0005 e males p=0.019 e p=0.0001, respectively). The following musculoskeletal abnormalities were found: pectus in 3 patients (11 percent), pectus and scoliosis in 19 (73 percent), dolichostenomelia in 11 (42 percent) and arachnodactyly in 21 (80 percent). Eleven patients (42 percent) with MS had previously undergone physical therapy. CONCLUSIONS: Patients with MS exhibit altered musculoskeleto and anthropometry and have infrequent physical therapy treatment.

[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.

[Medical management of Marfan's syndrome and ascending aortic aneurysms in France: initial assessment]. / Prise en charge médicale du syndrome de Marfan et des anévrismes de l'aorte ascendante en France: un premier bilan.

Over the last 30 years, there has been considerable progress in the management of aneurysms of the ascending aorta whether isolated or related to Marfan's syndrome which has considerably increased the life expectancy of these patients. The aim of this study was to assess the management protocol proposed in France for this condition in order to establish recommendations. A questionnaire was sent to cardiologists, paediatric cardiologists and cardiac surgeons and also to patients diagnosed with Marfan's syndrome. Most of the 228 physicians who replied prohibited violent sporting activities and less than a quarter advised against all sports. There was a wide dispersion in the prescription of beta blockers in Marfan's syndrome as 57% proposed this treatment only in cases with dilatation of the aorta and 5% prescribed no treatment at all. On the other hand, beta blockers were widely prescribed (93%) after replacement of the ascending aorta. When poorly tolerated in adults, the most commonly prescribed option was a calcium antagonist (60%) followed by angiotensin converting enzyme inhibitors and therapeutic abstention. On the other hand, 60% of paediatric cardiologists preferred to withdraw treatment. These results were confirmed by the replies from patients with Marfan's syndrome: 58.3% were prescribed beta blockers with a higher proportion in children less than 12 years of age. This treatment was introduced late, about 7 years after diagnosis. The authors conclude that there is much disparity in the management of ascending aortic aneurysms whether or not associated with Marfan's syndrome, especially with regards the prescription of beta blockers, justifying the publication of recommendations.