Marfan's syndrome. Causes, symptoms and diagnosis. Treatment of Marfan's syndrome

Marfan syndrome is called autosomal dominant genetic disease, which affects connective tissue and which is associated with impaired functioning of connective tissue. This syndrome is characterized by the presence in patients of disproportionately long limbs.

In such patients, long thin fingers, thin physique. In addition, they usually have cardiovascular defects, which often manifest as aortic and valve defects. The most serious consequences of the disease are damage to the heart valves, as well as a violation of the aortic wall. In addition, Marfan syndrome can affect the eyes, lungs, skeleton, hard shell of the spinal cord and hard palate. Therefore, this disease is characterized by polymorphism of clinical manifestations.

The Marfan syndrome can manifest itself in both moderate and very severe form. People with this disease usually have high growth and long thin limbs.

Its name was received on behalf of the French pediatrician Antoine Marfan. It was he who in 1896 first described the symptoms of this disease when he studied the characteristic features of the syndrome in a little girl. The gene that causes the disease was not immediately discovered, but only in 1991 by Francesco Ramirez, who works in New York.

Causes of

Marfan syndrome occurs in about 1 person out of 5 thousand people. Therefore, it is considered a fairly rare disease. According to the studies, this disease is caused by a mutation of a certain gene, namely the fibrillin protein gene, which is located on the fifteenth chromosome. This gene mutation leads to disturbances in the normal production of fibrillin and anomalies in its structure. Most often the gene of this syndrome is transmitted to children from their parents who also have this disease. If one of the parents has Marfan syndrome, then in 50% of cases the child will also be born with this disease.

Symptoms of Marfan's syndrome

There are no unique symptoms that are characteristic of this disease. For the diagnosis to be made, the presence of a combination of several symptoms should be considered. These attributes include: long limbs, an aneurysm of the root of the aorta and the dislocation of the lens of the eye. In total there are more than 30 clinical signs of this pathology. All these signs are mainly characterized by changes in the skeleton, joints and skin. It is believed that the probability of transmission of the syndrome by heredity is high.

The main part of the symptoms of Marfan syndrome is associated with the bone system. It is therefore not surprising that most people with this syndrome are quite tall. Some of them have long limbs and long thin fingers and toes. The ratio of the range of arms to growth is usually 105. In addition to disproportionate limbs and high growth, other disorders in the bone system can occur in patients. The most common disorder is the curvature of the spine. In addition, funnel-shaped or keel-shaped deformation of the chest, excessive flexibility of the joints, irregular bite, high palate, flat feet, stoop. In some patients, the joints of the toes are bent rather than resemble a hammer.

It is also possible the appearance of causeless stretch marks on the skin. Some patients note pain in the joint, pain in the muscles and bones. In addition, such patients may have a disorder and a speech disorder, which is caused by a small jaw size and a high sky. In addition, there is a possibility of early development of osteoarthritis.

To small criteria of disorders in the bone system is incomplete elbow joint extension, flat feet, wrist symptom and thumb symptom, protrusion of the acetabulum, scoliosis, joint looseness and "bird face". The presence of the syndrome can be said if the patient has at least two large disease criteria or one manifestation of a large and two manifestations of small criteria.

Marfan's syndrome can also negatively affect the eyes and eyes. Such patients are most often diagnosed with astigmatism and nearsightedness. In some cases, such people may be present in reverse farsightedness. In addition, in 80% of cases, an incorrect position of the lens in one or both eyes is noted. These abnormalities can easily be detected by a doctor with an ophthalmologist using a slit lamp. In some cases, vision problems appear only after the weakening of the connective tissue, which is due to the retinal bundle. Some patients at an early age have an ophthalmic problem, such as early glaucoma. A large criterion for the presence of changes in the eyes with this syndrome is the presence of subluxation of the lens. At the same time, it is shifted upwards and has a zinc bond defect. Small criteria include flattening of the cornea, hypoplasia of the iris, hypoplasia of the ciliary muscle, as well as an increase in the size of the eyeball. If there are at least two criteria, then we can already talk about the involvement of the eyes in the syndrome.

The most serious signs and symptoms of this disease are violations of the normal activity of the cardiovascular system. Signs of such disorders may include symptoms such as shortness of breath, fatigue, heart rhythm disturbances, heart palpitations and angina. Often, patients with the syndrome, because of such violations, hands and feet are almost always cold. If the diagnosis reveals heart murmur and changes in the ECG or if symptoms of angina are present, the patient is usually sent for further examination. The cause of regurgitation may be cystic medial degeneration of the valves, which is due to prolapse of the mitral and aortic valve.

A large criterion for diagnosing the disease is considered to be an expansion of the ascending aorta and exfoliating aneurysm of the ascending aorta. Small criteria include prolapse of the mitral valve, expansion of the pulmonary trunk and calcification of the mitral ring. The last two are counted only up to 40 years. Also, small criteria include enlargement or exfoliating aneurysm of the abdominal and thoracic aorta. This criterion is taken into account up to 50 years. If there are any of the small criteria, then we can talk about involving the cardiovascular system in the Marfan syndrome.

It is worthwhile to point out that the leading criteria for diagnosing the disease are considered as an extension of the aorta and aortic aneurysm. However, in some cases, the patient does not have any problems with the heart. Despite this, the weakening of the connective tissue causes an aneurysm or stratification of the ascending part of the aorta. This pathology requires surgical treatment. With aortic dissection, the patient complains of pain in the back or chest. Painful sensations can lead to the fact that the patient will experience a sensation of tearing. Because of a disruption in the functionality of connective tissue, artificial mitral valves may simply not take root in the body of the patient. For this reason, with Marfan's syndrome, one needs to be careful in treating heart valves. It is best to apply those methods of treatment that are not aimed at replacing the valve, but on restoring the normal functionality of the valve.

It is worth highlighting cases of pregnancy in women with Marfan syndrome. If a woman does not have any visible disturbances in the functioning of the cardiovascular system, the risk of aortic dissection is still quite high. This can lead to death, even if timely treatment is provided. For this reason, women with Marfan syndrome should undergo a thorough examination before getting pregnant, and get a doctor's opinion. If the doctor has allowed to become pregnant, then to determine the diameter of the aorta, it is necessary to perform echocardiography every 6-10 weeks during pregnancy. If you follow all the recommendations of the doctor, the birth will usually take place without any special complications naturally.

People with Marfan syndrome are at risk of developing air in the pleural cavity (pneumothorax). In this case, air leaves the lungs and occupies a cavity between the lungs and chest. This leads to the fact that the lungs contract. A patient with an accumulation of air in the pleural cavity usually complains of severe pain in the chest. At the same time he breathes mostly superficially and often. The patient has a pronounced shortness of breath. Often, these people are cyanotic or pale skin, especially the face. In the absence of adequate treatment, this can lead to death. Marfan's syndrome can also be associated with sleep apnea. At the same time a person stops ventilation for a while for more than ten seconds. As such, there are no large diagnostic criteria for the presence of the disease in the case of violations in the lungs. Among small criteria, it should be noted bulls in the top of the lung and spontaneous pneumothorax.

Marfan's syndrome can adversely affect the quality of human life if there is a dural ectasia, which is the weakening and dilatation of the connective tissue of the dural sac membrane that envelops the spinal cord. In general, among the lesions of the nervous system, the large diagnostic criteria of the syndrome have ectasia of the dura mater arising in the lumbosacral section. These disorders can be detected with the help of MRI (magnetic resonance imaging) or CT (computer tomography).


The final diagnosis of the disease can be made only after a comprehensive examination. In this case, genetics, cardiologists, ophthalmologists and orthopedists are involved. Genetics consider family history. The purpose of this is to identify relatives who died of cardiovascular disease. When examined by a cardiologist, chest X-ray, ECG, echocardiogram is usually performed. The latter is needed to determine the size of the aorta. An ophthalmologist examines the eyes when viewed with a slit lamp. This is necessary to detect a lens dislocation or any other abnormalities. An orthopedic doctor examines the spine and chest of the patient for the presence of scoliosis. He can also identify flat feet.

If it is confirmed that the disease is hereditary, then the final diagnosis is made if the presence of characteristic features in at least two systems of the body is determined.

If there is no heredity, it is necessary to confirm the presence of the disease in at least three systems of the body in order to make a diagnosis. It is worth noting that the symptoms of a child may not appear in early childhood, but may manifest itself at an older age. In some cases, it may take several years to make a diagnosis. Today it is possible to treat the symptoms even before the diagnosis is made.

Treatment of Marfan's syndrome

To date, there are no drugs that would treat Marfan's syndrome. Nevertheless, thanks to the achievement of modern medicine, the life expectancy of such patients has increased significantly. Treatment of this disease is usually carried out as it develops. But the most important is prevention, aimed at slowing the development of aortic aneurysm.

To reduce the damage to the heart valves and slow the progression of the aortic aneurysm, it is necessary to take medications that eliminate arrhythmia, lower blood pressure and reduce heart contractions. If the diameter of the aorta increases and the patient develops an aortic aneurysm, then it can provoke aortic dissection or lead to a failure of a heart valve. In this case, surgical intervention is necessary. Under such circumstances, a rather complicated operation for aortic transplantation is performed. It is best to perform an operation when the diameter of the root of the aorta is not more than 50 millimeters.

Breaches of the skeletal system and visual impairment are usually treated today with the help of muscle relaxants and various pain killers. The physiotherapist can apply TENS therapy and ultrasound.

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