Marfan's syndrome

Description:

Marfan's syndrome - a hereditary dominant disease of connecting fabric. Clinical identification of a syndrome was made by V. Marfan in 1886. Mutations in a gene of a fibrillin are the reason of a syndrome of Marfan (localization in a chromosome 15q21).

Symptoms of the Syndrome of Marfan:

Symptomatology of a syndrome of Marfan multisystem and various. Clinical polymorphism on degree of manifestation of symptoms is very expressed: from easy forms, difficult distinguishable from norm, to a disabling current.

    * Disturbances in a skeleton, crystalline lens dislocation, cardiovascular changes, an ectasia of a firm meninx are the most specific to diagnosis of a syndrome of Marfan.
    * Musculoskeletal system: a spider finger, an arachnodactyly, high growth, long extremities, deformation of a backbone (scoliosis, a chest lordosis, a hyper kyphosis), deformation of a front wall of a thorax (the pressed breast, a "chicken" breast or both options), abnormal mobility of joints (hyper mobility, inborn contractures or both options), flat foot, the high arkovidny sky, an underdevelopment of an acetabular hollow, a hypomyotonia.
    * Eyes: crystalline lens dislocation, a myopia, retina amotio, a big cornea, the increased eyeglobe axis, flattening of a cornea.
    * Cardiovascular system: aortal regurgitation, aneurism of the ascending part of an aorta, stratification of an aorta, mitral regurgitation, congestive cordial disturbances, a prolapse of the mitral valve, calcification of a mitral orifice, a dizritmiya.
    * Outside covers: inguinal hernias, atrophic striya. Pulmonary system: spontaneous pheumothorax.
    * TsNS: an ectasia of a firm meninx, including a lumbosacral meningocele, anomalies of development.

Diagnostic criteria for diagnosis of a syndrome of Marfan have to be observed strictly as some other inborn displaziya of connecting fabric (the hereditary or not found out yet nature) can be taken for Marfan's syndrome.

At undoubted existence of a disease at the relative of the I degree of relationship the diagnosis can be made if the proband has displays of a disease in two systems (bodies) and more from which one has to have more specific manifestations (crystalline lens dislocation, an aortectasia, stratification of an aorta, an ectasia of a firm meninx). At undoubted absence of sick relatives of the I degree of relationship the diagnosis of a syndrome of Marfan is made on condition of detection at a proband of disturbances of a skeleton and at least involvement in pathological process of two other systems, including one with the most specific manifestations (eyes, a skeleton, heart).

Syndrome frequency Marfana is equal in population to 1:10 000-1:15 000. Population and ethnic distinctions in the frequency and a clinical picture of a disease are noted.

Marfan's syndrome - the typical autosomal and dominant disease which is well studied in the kliniko-genetic plan. Clinical polymorphism is expressed very brightly, and its reasons are not clear. There are no distinctions in a clinical picture of the cases inherited from sick parents, and sporadic cases. With increase in age of the father (especially after 35 years) the probability of the birth of the child with a syndrome Marfan increases.

Reasons of the Syndrome of Marfan:

Several types of the mutations (generally миссенс) leading to disturbance of synthesis of a fibrillin are already revealed. Detection of communication of a gene of a fibrillin with Marfan's syndrome gives the chance to carry out molecular and genetic diagnosis, including prenatal.

Treatment of the Syndrome of Marfan:

The symptomatic treatment is carried out. Owing to etiological factors of this pathology there is no pathogenetic treatment.