Marfan Syndrome - Causes, Symptoms and Treatment .MF .

August 12, 2017 17:52 | Congenital Anomalies

Marfan syndrome refers to a monogenic disease of the connective tissue - a group of different origin clinical entities that combine hereditary metabolic disorders of connective tissue.Much of this pathology is caused by disturbance of enzyme systems that control the synthesis of structural proteins of which the synthesis of connective tissue.Almost all of these disease syndrome are part of the lead to severe debilitating disorders.

Marfan syndrome first described by Williams in 1876. The name of the disease was from the French pediatrician Marfan, was watching the girl with a characteristic symptom of the disease 20 years later.There is an interesting fact that the first girl model - Leslie Hornby, which served as the prototype image all the models had Marfan syndrome.Thus, it was found that a number of world-famous people have suffered from Marfan syndrome, among them, mention should be made of US President Abraham Lincoln and the great violinist Paganini.

Lesley Hornby (Twiggy)

Symptoms of Marfan syndrome

clinical picture of the disease is characterized by lesions of many vital organs and systems: musculoskeletal system, the cardiovascular system, respiratory system and eye, central nervous system.

Thus, among the constitutional features and disorders of the skeleton most common dolihoplastichesky (asthenic) type, high growth (usually above 180cm) in severe deficiency of body weight (usually less than 50 kg.), Arachnodactyly ( "spidery" fingers) of the hands andstop, kyphoscoliosis, funnel or keeled chest deformation, flat, narrow facial skeleton, "Gothic" sky.Not necessarily one man found all of these features, it is only the most rasprostraneenye

arachnodactyly

Appearance patient with Marfan syndrome

Typical also palpebral, "big" nose, large low-lyingears, "bird" facial expression.Neonates of the listed features of the skeleton are usually identified only dolihoplastichesky type and arachnodactyly.Other symptoms are formed in the later periods of development (usually within the first seven years of life).

Cardiac involvement and vessels - one of the cardinal features of Marfan syndrome.The most typical among them - mitral valve prolapse and aortic aneurysm.Cardiovascular disorders are recorded at the first and second years of a child's life, at the same time there is a gradual increase in aortic diameter, reaching critical size (up to 6 cm or more), usually between the ages of 16 to 45 years old.

threatening complication of aortic aneurysm is a bundle of its walls, which can progress rapidly, grabbing the entire length of the aorta and its branching off from the vessels.Such complications usually ends lethally.

Bronchopulmonary system is also involved in the pathological process in Marfan syndrome.The prerequisite for this is the mechanical compression of the airway with chest deformity and changes in connective tissue structures of the lung tissue.Respiratory Disorders as spontaneous pneumothorax, pulmonary emphysema, pulmonary infarction occur with a frequency of 10 to 75%.Along with this, there is evidence of congenital hypoplasia of one of the lobes of the lung, polycystic lung, congenital bullous emphysema, bilateral bronchiectasis.

The most typical pathology of the vision in Marfan syndrome refers dislocation and subluxation of the lens (as a result of the weakness of Zinn ligaments).As a rule, this pathology is combined with myopia or hyperopia of high degree.Subluxation of the lens is usually diagnosed by 1-5 years of life, and sometimes even 7 years old when the child's school registration.Less common secondary glaucoma, cataract, retinal detachment.These changes are usually detected in patients older 15 to 40 years.

IQ (intellectual growth factor) in most children with Marfan syndrome generally corresponds to the norm - 85-115 units.There are people with very high intelligence, whose IQ exceeds the upper limit of normal -115 units.However, there may be a certain peculiarity of mental processes, which manifests itself in an uneven intellectual activity, as well as the personal characteristics of the patient (irritability, tearfulness, high self-esteem).

For all children with Marfan syndrome is characterized by low exercise tolerance, which is often accompanied by pain in the muscles.There are also periodic bouts of migraine headache, occurring usually on the background or after the emotional and physical stress.These signs of the disease, coupled with the weakness, hypotonia and muscle hypoplasia, as well as impaired physical development serve as evidence of changes in the function of mitochondria (cellular bioenergy processes violation).

Marfan Syndrome Diagnosis

diagnosis of Marfan syndrome is based on genealogical data (collation and analysis of pedigrees) and morfofenotipa analysis, which includes the study of the physical, nervous and mental development of children and the state of the physical development of patients is performed using the percentile scales Stewart.

about proportionality and harmony of the individual parts of the body are judged by the use of index Du Ranta-Liner, which is calculated by the formula A / B × 100, where A - the ratio of actual body weight to 50 percentile weight corresponding to the growth of the patient, and in - the ratio of the actual lengthbody to the 50 percentile of the corresponding age growth.The index reflects the quantitative variation of physical development.This figure corresponds to less than 89 and higher growth with a deficit of body mass indices - 110-119 - overweight, more than 120 - obesity.For children, more than 120 - obesity.For children with Marfan syndrome index Du Ranta-Liner, as a rule, it is 51-81.

By resolution of the meeting dedicated to the syndrome of Marfan, for diagnosis, you must have at least one of the five main symptoms of the disease (dislocated lens, aortic aneurysm, arachnodactyly, sternal deformity, kyphoscoliosis) and two additional (myopia, mitral valve prolapse, mild hypermobility of joints,tall, flat, striae, pneumothorax).

was found that 90% of all cases of Marfan syndrome difficulty in correct diagnosis, as a rule, does not arise.However, 10% - diagnosis difficult.In such situations, especially needed very careful examination of the patient as much as possible a greater number of relatives.The examination program for these families must include advice, inspections ophthalmologist, cardiologist and echocardiography.

In the diagnosis of Marfan syndrome is also widely used by the results of X-ray functional methods.Thus, for use arachnodactyly evaluation indicators metacarpal index (ratio of length to width of the second to fifth metacarpal bones), calculated on the right hand radiograph.In patients with Marfan syndrome, there is an increase this figure to at a rate of 6,4-7,9 8,0-11,0.

nature and severity of cardiovascular disease is assessed by echocardiography, ECG, Holter monitoring.Analysis of the respiratory system is carried out according to a study of respiratory function.The overwhelming number of children with Marfan syndrome are registered changes in these indicators manifested in violation of breathing mechanics, swelling of the lung tissue, the uneven distribution of air inhaled in the lungs hypercapnia.Children with Marfan syndrome detected reduction of reparative abilities of DNA-lymphocytes, which must be taken into account in the X-ray examination of the choice of profession and place of residence of the patients.

Marfan's syndrome is an increase (twice or more) urinary excretion gpikozaminoglikanov and fractions thereof, particularly wherein the renal excretion increases sharply 4-6 chondroitin sulfates and to a lesser extent - gialouranovy acid and heparin sulfate.

The differential diagnosis is carried out with similar syndromes and genetic diseases.As a comparison criterion serves a number of signs of the various diseases.

Signs Various syndromes with similar symptoms
Marfan Beals Stickler Vale Marchezani
asthenic physique + + + -
arachnodactyly + + + -
chest deformity +/- +/- - -
aortic aneurysm + - - -
lens subluxation + - - +/-
Autosomal dominant inheritance + + + -

treatment of Marfan syndrome

Children with Marfan syndrome is a complex therapy, including a wide range of drugs - drugs affecting the cardiovascular system, CNS stimulants, energotropic drugs and antioxidants on a "complex therapeutic interventions used for the treatment of patients with Marfan syndrome"

Beta-blockers - obzidan, atenolol - 10 mg / day, the duration of 6-12 months or more.

energotropic and antioxidant formulations:
1. Riboxinum - 1 tab.(0.2), 2 times a day for 1 month, three courses per year;
2. Vitamins B1, B2 10 mg / day, 10 days a month;
3. ascorbic acid up to 500 mg / day for 1 month, 3-4 courses per year;
4. tocopherol (Vit E) to 100 mg / day, for 3-4-month courses per year;
5. Elkar - 200-400 mg / day, 3 months, 2-3 courses per year;
6. dimephosphon - 30 mg / kg - 1 month, 3-4 courses per year, • coenzymeQ10 - 30 mg 2-3 times a day, 3 months, 2-3 courses per year,
7. limontar - 5 mg /kg / day, 10 days, 4 courses per year,
8. nootropics piracetam -200-400 mg 2 times a day for 2 months, 3 courses per year

Along with medication, children with Marfan syndrome is also required complexother treatment modalities, including magnetic therapy on the joints (course of 10 sessions, 3 courses per year), electrosleep (course of 10 sessions - twice a year), exercise therapy with a primary effect on the musculoskeletal system (a course of 14 days, 4 courses per year), a sanatorium for patients with impaired function of bones and joints and the cardiovascular system (treatment 24 days - 1 per year) but the indications, surgical treatment is carried out thoracoplasty, aneurysmectomy, plastic aorta, the extraction of the lens, and tonsillectomy adenotomy.Implemented as a regular sanitation of (at least two times a year), chronic foci of infection of the mouth and teeth.

Under the influence of complex therapy in 78-80% of children with Marfan syndrome marked improvement or stabilization of the main pathological process.

clinical criteria of treatment efficacy are increasing exercise tolerance, increase in muscle strength, stabilization of the diameter of the aorta (by echocardiography) and a trend toward normalization of respiratory function, improved fine motor skills, increase emotional tone, increase the volume of an arbitrary memory and concentration, improving school performance.Positive dynamics of biochemical manifested in the reduction of lactic and pyruvic acids.

When monitoring patients with Marfan syndrome need to fulfill the following requirements to the labor regime, recreation and rehabilitation:

1. children with Marfan syndrome are resolved physical education classes only at easing program (special groups and grupy therapy);
2. strictly prohibited classes in sports clubs and participation in competitions, agricultural work, campaigns for long distances over rough and mountainous terrain carrying heavy loads (max 3 kg);
3. strictly prohibited specialty related to occupational hazards: contact with chemicals, paints, working in conditions of high temperatures and exposure to radiation, as well as the profession, coupled with the vibration that require high visual acuity, greater physical and emotional costs;
4. when choosing a residence patients contraindicated hot climate and high radiation zone;
5. Pregnant women with Marfan syndrome need to once every 2 months to conduct echocardiography.If the aortic diameter of 45 mm and above should immediately decide whether to continue the conservation of pregnancy;
6. delivery was women with Marfan syndrome should be implemented by caesarean section at specialized maternity hospitals for women with disorders of the cardiovascular system.

Prevention Marfan syndrome

patients with Marfan syndrome, marrying, shows medical and genetic counseling, information on the extent of the risk of re-development in children of the same disease.Along with this, also requires pre-natal diagnosis.

therapists Zhumagazy EN