Marfan Syndrome is a genetic disease that affects the connective tissue, which is responsible for the support and elasticity of various organs in the body. People with this syndrome tend to be very tall, thin and have extremely long fingers and toes and may also have changes in their heart, eyes, bones and lungs.
This syndrome occurs due to a hereditary defect in the fibrillin-1 gene, which is the main component of ligaments, artery walls and joints, causing some parts and organs of the body to become fragile. The diagnosis is made by a general practitioner or pediatrician through the person's health history, blood tests and imaging and the treatment consists of supporting the sequelae caused by the syndrome.
Main symptoms
Marfan syndrome is a genetic disease that causes changes in various systems of the body, leading to signs and symptoms that can arise at birth or even throughout life, the severity of which varies from one person to another. These signs can appear in the following places:
- Heart: the main consequences of Marfan's syndrome are cardiac changes, leading to loss of support in the artery wall, which can cause aortic aneurysm, ventricular dilation and mitral valve prolapse; Bones: this syndrome causes the bones to grow excessively and can be observed by exaggerating the height of a person and by the arms, fingers and toes that are too long. The hollowed chest, also called pectus excavatum, can also be present , which is when a depression forms in the center of the chest; Eyes: it is common for people who have this syndrome to have displacement of the retina, glaucoma, cataract, myopia and may have the whitest part of the eye with a more bluish color; Spine: the manifestations of this syndrome can be seen in spinal problems such as scoliosis, which is the deviation of the spine to the right or left side. It is also possible to observe an increase in the dural sac in the lumbar region, which is the membrane that covers the spine region.
Other signs that may arise because of this syndrome are the looseness of the ligaments, deformities in the palate, known as the roof of the mouth, and flat feet, which are characterized by long feet, without the curvature of the sole. See more what is flatfoot and how the treatment is done.
Causes of Marfan syndrome
Marfan's syndrome is caused by a defect in the gene called fibrillin-1 or FBN1, which has the function of guaranteeing support and forming the elastic fibers of various organs of the body, such as bones, heart, eyes and spine.
In most cases, this defect is hereditary, this means that it is transmitted from the father or mother to the child and can happen in both women and men. However, in some rarer cases, this defect in the gene can happen by chance and for no known reason.
How the diagnosis is made
The diagnosis of Marfan's syndrome is made by a general practitioner or pediatrician based on the person's family history and physical changes, and imaging tests, such as echocardiography and electrocardiogram, may be ordered to detect possible heart problems, such as aortic dissection. Learn more about aortic dissection and how to identify it.
X-rays, computed tomography or magnetic resonance imaging are also indicated to check for changes in other organs and blood tests, such as genetic tests, which are able to detect mutations in the gene responsible for the appearance of this syndrome. After the results of the tests come out, the doctor will provide genetic counseling, in which recommendations on the family's genetics will be given.
Treatment options
The treatment of Marfan syndrome is not aimed at curing the disease, but it helps to reduce symptoms in order to improve the quality of life of people with this syndrome and aims to help minimize spinal deformities, improve the movements of joints and reduce the possibility of dislocations.
Therefore, patients with Marfan syndrome should have regular examinations of the heart and blood vessels, and take medications such as beta-blockers, to prevent damage to the cardiovascular system. In addition, surgical treatment may be necessary to correct lesions in the aortic artery, for example.
