Genetic diseases

Marfan syndrome

Marfan syndrome

Marfan syndrome Marfan syndrome - a hereditary connective tissue diseases characterized by pathological changes in the nervous system, cardio - vascular system, musculo - skeletal system and other systems and organs of the human body. Marfan syndrome is inherited in an autosomal - dominant type and occurs in people of all races, almost equal sex ratio.It is well established that in Marfan syndrome basic defect directly related to the impairment of collagen, while not ruled out the probability of hitting the elastic fibers of the connective tissue

Marfan syndrome causes of

This syndrome is a rare genetic disorder and occurs in about 1 person in 5000. As a result, numerous studies have shown that the disease is caused by mutating the gene of the protein fibrillin in the fifteenth chromosome, which subsequently leads to abnormalities in the structure and development of fibrillin.

According to statistics, about 75% of cases there is a transfer of Marfan syndrome gene from their parents have

the disease to their children.In the remaining 25% of cases when it is not one of the parents is not detected the disease, genetic mutations can trigger the syndrome Mafa arise spontaneously in the sperm or egg at conception.The reasons for this mutation to date until the end and not found out, however, with a 50% probability it can be argued that children are born with this mutation will pass the disease to their children

Marfan syndrome symptoms and signs

People with Marfan syndrome enoughoften much higher than their relatives and peers and distinguished asthenic physique.When compared with the dimensions of the body, their extremities are disproportionately long, the swing arms often much greater than their height.Toes and hands in most cases quite thin and long.People with Marfan syndrome can highlight the similarity of facial features: small jaw, deep-set eyes, an elongated skull, abnormal growth of teeth, high gothic sky.Marfan syndrome in humans are observed following systemic diseases:

From the skeleton Marfan syndrome

addition of long limbs and overgrowth, Marfan syndrome can cause problems such skeletal development as a curvature of the spine (scoliosis), and the deformation of the front wall of the chest ("chicken breast ", depressed chest).Also, patients with this syndrome common problems is flat and soft joints

the part of the eye

More than 50% of patients with Marfan syndrome have a so-called "dislocation of the lens."In addition, such people have often been short-sightedness (myopia), increased intraocular pressure (glaucoma), clouding of the lens (cataract) and peel the retina

the part of the vessels and the heart

most serious considered complications of Marfan syndrome,associated with the heart.This syndrome may eventually cause the separation wall and the expansion of the aortic root, which carries blood from the heart muscle throughout the body.Due to the sudden rupture of the aorta can occur death.Often there are problems with the heart valve (usually the aortic and / or mitral), which begins enough tightly closed, so that the blood flows back to the heart.From - for such a leak develops an arrhythmia (irregular heartbeat), shortness of breath and heart murmurs.Besides leaking valves causing a significant increase in the heart, thereby impeding its operation.

Other symptoms that can affect the nervous system, lungs and skin (especially in adolescents and young children) are generally less serious and a little common

Marfan syndrome diagnosis

easiest diagnosis of Marfan syndrome is set when the patientor someone - a family member is showing signs of dislocation of the lens, chest wall deformity, kyphoscoliosis or a sharp expansion of the aorta.When aortic aneurysm, and ectopia of the lens, set the diagnosis even in the absence of family history and external marfanoidnyh signs.All patients with suspected Marfan syndrome are examined by echocardiography and slit lamp

Marfan syndrome treatment

Unfortunately nowadays certain means and methods for treating Marfan syndrome does not exist (as well as for treatment of other inherited diseases of the connective tissue).The main objective of the current symptomatic treatment - this treatment and prevention of complications of this disease.Some experts in order to prevent severe aortic changes recommended to use Inderal (propranolol), but its effectiveness is not proven.In some cases, it is shown holding plastic surgical mitral and aortic valve, and aorta.

When progressive scoliosis shown holding physiotherapy and mechanical strengthening of the skeleton.If the deviation angle exceeds 45 *, carried out surgical correction.

forecast future life of people with Marfan syndrome is mainly determined by changes of the cardio - vascular system.Rupture of the pulmonary trunk and aortic aneurysms are most often causes of death in this disease.

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