Marfan Syndrome

The Marfan syndrome, also known as arachnodactyly is a disorder of connective tissue characterized by unusually long limbs. The disease also affects other body structures, including the skeleton, lungs, eyes, heart and blood vessels, but less obviously. Its name comes from Antoine Marfan, the French pediatrician who first described it in 1896.
Individuals with this disorder often present at skeletal abnormalities, ocular and cardiovascular, among others. Many of affected individuals have changes in heart valves and dilated aorta. Cardiovascular complications are the most important in terms of risk of death are aortic aneurysms and dissections. The prevalence is approximately 1 in 5000 individuals.
Treatment and alerts
Although there is no cure for Marfan syndrome, there are many options to control symptoms. Because Marfan syndrome is rare, it is important to find a doctor who is knowledgeable about the condition. During the initial physical examination, a detailed medical history and family will be done with the height measurement, eye examination and an electrocardiogram. A skeletal annual review to detect all changes in the spine or sternum is typically conducted. This review is particularly important during the period of high growth teenager. A serious anomaly not only disfiguring but may also prevent the heart and lungs to function properly. In some cases, a brace or an orthopedic surgery may be recommended in order to limit the damage.
Regular eye exams are vital to discover and correct all vision problems. In most cases glasses or contact lenses can correct the problem. However, surgery may be needed in some cases. Regular analyzes and echocardiograms help assess the size of the aorta and the way the heart is working. The earlier potential problem is identified and treated, the lower the risk of life-threatening complications. Those with heart problems should wear a bracelet warning doctor and seek emergency care if they feel chest pain, back or abdomen. Some problems heart valve can be controlled with drugs such as betablockers, which can help reduce stress in the aorta. However, surgery to replace a valve or aortic repair may be required.
Marfan patients are generally treated with beta so as to decrease heart rate and inotropism the heart (contractive force). In case of aortic aneurysm, refers to surgical intervention. It is also important that the patient is reminded of the importance of proper oral hygiene in order to prevent entry of bacteria through this pathway and thus prevent complications such as endocarditis.
Diagnosis
The main clinical manifestations of Marfan syndrome are concentrated in three main systems: the skeletal system characterized by tall stature, scoliosis, elongated arms and hands and chest deformity, cardiovascular, characterized by changes of the mitral valve and dilatation of the aorta, and the eye, characterized by myopia and lens luxation. This ability to achieve different organs so called pleiotropy. Clinical manifestations, there are the more threatening: aneurysms and aortic dissections.
The mitral valve is located between the left atrium and ventricle and its function is to let the blood pass toward the left ventricle and not allow their return to the lobby or reflux.
In Marfan syndrome, mitral valve, often presents itself changed, thickened, redundant and prolapsed part of it into the left atrium. This prolapse may lead to significant dysfunction of the valve leaking or significant reflux. These changes are evaluated by clinical examination and echocardiography, and are liable to surgical correction. A possible complication is the mitral valve prolapse endocarditis, or bacterial infection of the mitral valve itself, and therefore it is recommended to endocarditis prophylaxis by administration of antibiotics before some medical procedures such as tooth extraction or other surgeries, hence the importance of a joint approach with the dentist and the cardiologist.