Latest advances in the diagnosis and treatment of Marfan syndrome / 中国当代儿科杂志

Marfan syndrome (MFS) is a multisystem connective tissue disease with autosomal dominant inheritance. It is mainly caused by FBN1 gene mutation and often has different clinical manifestations. Neonatal MFS is especially rare with severe conditions and a poor prognosis. At present, there is still no radical treatment method for MFS, but early identification, early diagnosis, and early treatment can effectively prolong the life span of patients. This article reviews the latest advances in the diagnosis and treatment of MFS.

Efeito de um programa de exercício físico em portador da Síndrome Marfan com disfunção ventricular / Effect of a physical exercise program in a patient with Marfan Syndrome and ventricular dysfunction / Efecto de un programa de ejercicio físico en portador del Síndrome Marfan con disfunción ventricular

A Síndrome de Marfan (SM) é uma desordem autossômica dominante que afeta múltiplos órgãos e sistemas. Diversas alterações cardíacas estão presentes, sendo as principais a dilatação da raiz da aorta e da aorta ascendente, o Prolapso de Valva Mitral e a dilatação do Ventrículo Esquerdo (VE). O exercício aeróbico tem-se mostrado um recurso terapêutico não medicamentoso, por promover efeito de antirremodelamento em pacientes com insuficiência cardíaca. Este relato de caso descreve as alterações ecocardiográficas de um paciente com Síndrome de Marfan durante quatro anos de um programa de fisioterapia cardiovascular.

Marfan syndrome (MS) is an autosomal dominant disorder that affects multiple organs and systems. Several cardiac alterations are present, with the main ones being aortic root and ascending aorta dilatation, mitral valve prolapse and left ventricle (LV) dilatation. Aerobic exercise has not shown to be a non-drug therapy that promotes anti-remodeling effect in patients with heart failure. This case report describes the echocardiographic changes in a patient with Marfan syndrome during four years of cardiovascular physical therapy.

El Síndrome de Marfan (SM) es un desorden autosómico dominante que afecta múltiples órganos y sistemas. Diversas alteraciones cardíacas están presentes, siendo las principales la dilatación de la raíz de la aorta y de la aorta ascendente, el Prolapso de Válvula Mitral y la dilatación del Ventrículo Izquierdo (VI). El ejercicio aeróbico ha mostrado ser un recurso terapéutico no medicamentoso, por promover efecto de antirremodelado en pacientes con insuficiencia cardíaca. Este relato de caso describe las alteraciones ecocardiográficas de un paciente con Síndrome de Marfan durante cuatro años de un programa de fisioterapia cardiovascular.

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.

Enfoque interdisciplinario en el tratamiento del Síndrome de Marfan: resultados a 17 años / Interdisciplinary approach of Marfan Syndrome: a 17-year experience

Introducción: el Síndrome de Marfan (SM) es una enfermedad genética de baja prevalencia (1/5.000) individuos). Esta entidad posee características cardiovasculares, esqueléticas y oculares bien definidas. El pronóstico depende fundamentalmente de la dilatación de la raíz aórtica que provoca disección y/o ruptura de la misma. Hay gran desconocimiento sobre este síndrome por parte de los médicos de todas las especialidades. Con la formación de un equipo interdisciplinario diseñamos un registro sobre esta patología, relevando el comportamiento clínico y quirúrgico. Objetivo: registrar la información clínica y evolutiva de los pacientes con SM derivados de diversos lugares de nuestro país a nuestro centro con el fin de lograr una mejor atención de esta patología y detectar la presencia de dilatación de la raíz aórtica. Material y métodos: entre 1992 y 2009 se incluyeron pacientes con diagnóstico de SM de acuerdo a los criterios internacionales establecidos en Ghent. Fueron evaluados por traumatólogos, cardiólogos, cirujanos cardiovasculares, oftalmólogos, nutricionistas, neumonólogos y psicólogos y controlados periódicamente con un programa preestablecido recibiendo tratamiento preventivo médico y/o quirúrgico. Resultados: se evaluaron 273 pacientes, 145 de sexo masculino (53,5%). La edad promedio fue de 25,7 años (2 a 70 años). Las manifestaciones diagnósticas cardiovasculares correspondieron en orden decreciente a: aneurisma de aorta torácica 84 p (30,7%), insuficiencia valvular aórtica 47 p (17,2%), prolapso de válvula mitral 30 sujetos (10,9%) e insuficiencia mitral en 28 (10,2%). 63 % (90 pacientes) requirió cirugía de reemplazo de aorta ascendente. 76 pacientes en nuestro Hospital, el 84 % de las cirugías fueron programadas. Conclusión: la constitución de un equipo interdisciplinario permitió controlar un importante número de pacientes con SM con la detección de un número significativo de casos pasibles de tratamiento preventivo del aneurisma de aorta torácica.

Introduction: Marfan syndrome is a genetic disorder of low prevalence (1/5,000 subjects). This disorder has well defined cardiovascular, skeletal and ocular features. Its prognosis depends mainly on the aortic root dilation leading to its disection and/or rupture. This Syndrome is not well known among physicians of all specialties. In order to study the clinical and surgical characteristics of this disorder, we form an interdisciplinary team and design a registry. Objective: To register the clinical information and evolution of patients with Marfan Syndrome referred from different areas of our country to our Hospital in order to get a better attention of this disorder and to detect the presence of thoracic aorta dilation. Methods: Between 1992 and 2009, patients with Marfan Syndrome were included according to the international criteria established in Ghent. An interdisciplinary team formed by: traumatologists, cardiologists, cardiovascular surgeons, oftalmologists, specialists in nutrition, neumonologists and psychologists, evaluated and controlled the patients periodically with a pre set program receiving medical and/or surgical treatment. Results: it were evaluated 273 patients, 146 male (53,5%). Average age was 25.7 years (2-70 years old). Cardiovascular manifestations were in decreasing order: thoracic aorta aneurysms 84 p (30.7%), aortic valve regurgitation 47p (17.2%), mitral valve prolapse 30p (10.9%) and mitral regurgitation 28 p (10.2%), 90 patients (63%) required replacement of the ascending aorta, 76 were performed in our Hospital, and 84% of the procedures were scheduled. Conclusions: the formation of an interdisciplinary team allowed to control an important number of patients with Marfan Syndrome detecting a significant amount of cases which could be treated with preventive surgery of the thoracic aorta aneurysms, main cause of early mortality.

Síndrome de Marfán / Marfan Syndrome

Marfan Syndrome is an autosomic dominant genetic disorder of the elastic fibers of connective tissue. Although neonatal and infant forms of the disease exist, the classic Marfan Syndrome is the most frequent form of presentation in childhood and adolescence, whith a hereditary background in 70 to 85 percent of cases. Due to the natural evolution of the disease, there is a progressive involvement of different organs or systems such as skeletal, cardiovascular, dura, ocular, skin-integument and lungs. However, the suspicion must arise on skeletal clinical aspects which are first evident signs. The cardiovascular involvement appears later but is the major life threatening complication. When suspecting Marfan phenotype, it is mandatory to apply Ghent criteria based on family history and clinical findings to establish the diagnosis. If diagnosis is confirmed, the severity of organ involvement must be assessed, to take preventive and/or therapeutic measures, including the search of new cases among relatives. When patients do not fulfill the diagnostic criteria, they must have a yearly evaluation considering the natural progressive evolution of the disease. The aim of this review is to spread and unify criteria on this disease whose diagnosis is eminently clinical, that requires early integral and updated management by a multidisciplinary group, to obtain the best quality of life and survival.

Síndrome de Marfán / Marfans syndrome

Se presenta el caso de una familia con síndrome de Marfán diagnosticada a través de uno de sus miembros quien ingresó a las sala de urgencias por episodio de insuficiencia cardíaca.

Síndrome de Marfán y embarazo / Marfan's syndrome and pregnancy

El síndrome de marfan presenta graves complicaciones en la mujer embarazada. Se presenta un caso clínico de una paciente aquejada del síndrome en la cual no hubo complicaciones maternas ni fetales. Se realiza una revisión del cuadro clínico y las complicaciones que acompañan al síndrome

Síndrome de marfan / Marfan's syndrome

Os autores apresentam um caso de síndrome de Marfan estudado física, psicológica e geneticamente em 1986, documentando-o. Fazem revisäo da literatura no período de 1956-1986, selecionando os trabalhos mais completos sobre a síndrome. Abordam aspectos da síndrome, relatando alteraçöes bioquímicas, microscópicas e macroscópicas que geralmente ocorrem, comparando-nas às alteraçöes encontradas no probando. Fazem estudos genéticos, levantando a hereditariedade, consangüinidade no caso apresentado e a expressividade da síndrome. Levantam diagnósticos diferenciais e possíveis tratamento paliativos

Síndrome de Marfan: revisäo e apresentaçäo de um caso clínico / Marfan's syndrome: review and report of a clinical case

Este trabalho aborda uma revisäo de literatura sobre Síndrome de Marfan e apresenta um caso clínico, avaliando as principais anormalidades encontradas