Symptoms, diagnosis and treatment of Marfan Syndrome (arachnodactyly)

The dolichostenomelia (Marfan syndrome): causes, symptoms, diagnosis

The dolichostenomelia or Marfan syndrome is a genetic disease of autosomal dominant type that affects the connective tissue. Characterized by long arms and legs, very thin and bony fingers and lean physique.

These people have cardiovascular defects, often in the form of pathologies of the heart valves and aorta. The name of the disease derives from the name of a French pediatrician Marfan, who first described a patient 5 years old with long slim legs and fingers.

This genetic disorder is the result of a disturbance in the connective tissue and is associated with significant polymorphism of symptoms. It can be aneurism of the aorta, myopia, gigantism, deformity of the chest, ectopia of the lens, kyphoscoliosis, ectasia of Dura and other abnormalities.

The dolichostenomelia not depend on the sex of the patient. Among children, the percentage is 6.8%, with most of them are boys. The prevalence of the disease is 1:10,000 people.

Causes of mutation

Marfan’s syndrome — abnormality from birth, which is inherited in an autosomal dominant pattern. The reason for this is the mutation of the gene FBN1, which is responsible for the synthesis of the structural protein of the extracellular matrix — fibrillin. That it affects the elasticity and contractile properties of connective tissue. The lack fibrillin and its pathology contributes to the disruption of the formation of the fibrous structure, the loss of strength of connective tissue and the inability to endure physical activity.

In 3/4 of all cases the causes of Marfan syndrome is hereditary, and in others is a primary mutation. If the father age more than 35 years in history there were cases of this anomaly, the likelihood that disease will suffer and the child is very high.

The main symptoms that accompany Marfan’s syndrome

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There are two forms of manifestations of the syndrome of arachnodactyly, which depend on the degree and number of affected systems and organs:

  1. worn with weak expression in 1-2 systems;
  2. expressed in the poorly marked changes in 3 systems in one system or in 2-3 systems and more.
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The severity is divided into mild, moderate and severe. The characteristic features of the disease distinguish stable and progressive Marfan syndrome.

The symptoms are divided depending on the localization of manifestations of connective tissue dysplasia. The main symptoms of the disease include:

Changes in musculoskeletal system

A large part of the symptoms associated with a disorder of the skeletal system. The growth of the patient is usually above average. Characteristic asthenic type of build, narrow skull with bird-like facial features, too narrow or deformed chest, flat feet, bone dolichostenomelia, spinal deformity, hypermobility of the tendons and joints.

In addition to distortions of the limbs and is tall there are other failures in the functioning of the skeletal system. Most often it is scoliosis, a deformed funnel-shaped chest, very flexible joints, malocclusion and high palate, deformity of the toes. Can be a pain in the muscles, joints, and bones. Also sometimes there may be slurring of speech, possible osteoarthritis at an early age.

Blurred vision

The disease can affect vision. Very often in patients with diagnosed myopia and astigmatism less hyperopia. It is also possible to the following disorders: myopia, blue sclera, aniridia, ectopia and subluxation of the lens, hyperopia of high degree, coloboma, aphakia.

In 80% of cases there is a violation of the position of the lens, and on one or on both eyes. Problems with vision can occur after the weakening of connective tissue, caused by the stratification of the retina. Another eye problem associated with dolichostenomelia is glaucoma, resulting in a fairly early age.

Disruption of the Central nervous system

One of the serious consequences of Marfan syndrome is dural ectasia, which is characterized by dilation and weakening of the Dura of the brain (membrane). Back pain, lower back, legs, pelvis and abdomen, a headache may not appear or disappear immediately as soon as you lie down on a flat and smooth surface on the back. In this regard, appoint an x-ray of lumbar magnetic resonance imaging.

To neurological problems in arachnodactyly include degenerative disease of intervertebral discs and bones of the back and development of pathology of the autonomic nervous system.

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The violation of the cardiovascular system

Fail in the following systems and organs:

  • the heart and great vessels;
  • violation of intraventricular conduction;
  • moderate hypertrophy of the myocardium of the left ventricle;
  • aortic aneurysm;
  • aortic insufficiency;
  • mitral valve prolapse;
  • hypoplasminogenemia the expansion of the pulmonary artery and the aortic root, a dangling heart;
  • the double or extended aortic root;
  • failure intracardiac dynamics;
  • mitral regurgitation (mixomatosis degeneration of the valves, increasing their size and expanding the annulus, the increase in the prolapse and laxity of the valves).

The overall clinical picture

In General terms, the signs of the disease as follows: patients present muscle weakness, reduced activity during exercise. The patient has small body weight, muscle hypotonia, hypoplasia of muscle and adipose tissue, small size light, long intestines, an aneurysm of the sinuses of Valsalva.

Also, the patient might have a disorder of the pituitary gland: high growth, diabetes insipidus, acromegalic disorders, long limbs and feet, disorder of vegetative system, akromegaliei violations.

Used by modern medicine methods of diagnostics diseases

Diagnosis of Marfan syndrome is made on the basis of hereditary factors, symptoms, examination, patient, x-ray, ophthalmologic, and genetic surveys, as well as ECHOCARDIOGRAPHY, ECG and laboratory tests.

While the diagnosis is carried out by phenotypic tests for the determination of the ratio of the brush and growth, the length of the middle finger, index Varga, with the thumb test on the dolichostenomelia and coverage of the wrist.

With the help of ECG and ECHO determines the rhythm of the heart, myocardial hypertrophy, mitral valve prolapse, rupture of chords and enlargement of the left ventricle.

With radiography, you can see the extended arc of the root and the aorta, the large size of the heart. X-rays of the hip joints will show the protrusion of the acetabulum.

MRI of the spine allows you to define ectasia the Dura of the brain, dilation and aneurysms of the aorta will show CT and MRI of the heart and blood vessels.

With the help of biomicroscopy and ophthalmoscopy to detect ectopia of the lens. Identification of genes will show mutations in the gene FBN1.

Treatment of arachnodactyly in all its manifestations

To date, cure for the Marfan syndrome does not exist as such. But in recent years, the life expectancy of patients with Marfan syndrome has improved significantly. Treatment methods are determined by the extent of the disease, and especially important is how to prevent its occurrence. Therefore, the main treatment is aimed at preventive measures for the development of the disease and subsequent complications of the heart and blood vessels. This also applies to small children — all actions should be aimed to slow the development of aortic aneurysm.

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In the course of treatment of the disease includes conservative and surgical methods of correction of cardiovascular disorders, lesions of the organs of sight and of the skeleton. If the aorta diameter is not more than 4 cm, the patient is administered calcium antagonists, ACE inhibitors or β-blockers.

Surgical intervention should be carried out in the case that the diameter of the aorta constitute yaet more than 5 cm, has a mitral valve prolapse, heart valve insufficiency and aortic dissection. In some cases, perform the prosthetic mitral valve of the heart.

In case of problems with vision, patients prescribed correction, picking up glasses and contact lenses. In severe cases performed vision correction by laser or surgery.

In childhood in the case of skeletal disorders, surgical stabilization of the spine, hip joints and thoracoplasty.

The treatment also includes vitamins, metabolic and pathogenetic therapy with normalization of collagen. An important component is the work of a physiotherapist, which in the treatment of Marfan syndrome includes the impact of current (TENS-therapy), as well as ultrasound and other methods for improving the work of the skeleton, affecting the height and length of arms, length of life.

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