Marfan syndrome — symptoms and signs of disease in people and the type of inheritance

There are many hereditary diseases without treatment which people live long. One such disease is Marfan (code ICD – Q87.4). Rare, prevalence of 1 case per 10,000 people. The risk of having a child with this abnormality is increased if the disease Marfan have with parents. Find out how visible the dolichostenomelia.

Marfan syndrome – what is it

The disease is hereditary, caused by disorders of protein synthesis fibrillin. Formed in the fetus during intrauterine development is characterized by changes in the skeleton. Morfinopodobnyj syndrome manifests itself in different ways: the most common anomaly affecting the eyes, cardiovascular system, musculoskeletal system. For the diagnosis different methods are used. All manifestations of pathology are somehow connected with the increased extensibility of the tissues.

Marfan syndrome – a type of inheritance

The disease may have a person of any race and any gender. The type of inheritance of Marfan syndrome is autosomal dominant. Mutation always occur, the severity of symptoms depends on the genetic characteristics. Due to the violation of protein synthesis fibrillin connective tissues lose strength, which is reflected in the walls of blood vessels, ligaments. Only 25 % of all cases of autosomal disease Marfan are the first encountered mutation in the family, where previously Marfan syndrome are not met.

Marfan syndrome – causes

Genetic disease is very rare and insufficiently examined. If we talk about the causes of Marfan syndrome, the most correct is the assumption that genetic mutations protein fibrillin. This happens spontaneously at the moment of conception in the egg or sperm. It is possible to identify the main causes contributing to the appearance of the syndrome:

  • heredity;
  • father’s age (over 35 years).

Marfan syndrome – symptoms

If a person has spider fingers syndrome, the disease can be identified by its appearance. People characterized by high growth, disproportionately long limbs, a very thin fingers and feet. In addition asthenic physique characteristic small jaw, malocclusion, deep-set eyes, and keeled chest. All patients with the same form of the skull is elongated (dolicocephaly). The symptoms of Marfan syndrome are manifested depending on the destruction of individual organs and systems that constitute the classic triad. It can be:

  • funnel-shaped (depressed) rib cage;
  • spinal deformity, scoliosis;
  • calcification of the valve ring of the mitral valve;
  • flat feet;
  • hypermobility;
  • tachycardia;
  • short torso;
  • clouding, subluxation, ectopia of the lens;
  • the increase intraocular pressure;
  • myopia;
  • asymmetry of the pupils;
  • protrusion of the acetabulum;
  • problems with the aorta (expansion, stratification), which can be fatal;
  • disrupted the cardiovascular system (atrial fibrillation, tachycardia gastric);
  • muscle hypotonia;
  • infective endocarditis;
  • kyphosis;
  • dislocations of the cervical;
  • annuloaortic ectasia;
  • the prognathism of the jaw;
  • ischemic and hemorrhagic strokes;
  • mental endowments;
  • stenosis of the pulmonary artery;
  • coarctation of the aorta;
  • damage to the nervous system;
  • mixomatosis degeneration of the valves of the mitral valve;
  • dilatation of the heart chambers;
  • the defeat of the mitral valve of the heart;
  • diabetes insipidus;
  • the adrenaline rush;
  • combined lesions of the mitral valve;
  • VSD, ASD;
  • the development of extraordinary abilities;
  • the gap of the flap chord;
  • pain in the joints, bones;
  • spondylolisthesis;
  • arcuate sky.

Marfan syndrome – diagnosis

To determine the exact diagnosis of the syndrome spidery fingers physicians collect family history, conduct an external examination, are required to appoint a genetic test, KG, Echo and so on. Experts define the relationship between the growth of man and his brushes, reveal the deformity of the chest, kyphoscoliosis, the presence of dolichostenomelia, conduct tests Varga, coverage of the wrist and so on.

Thanks to x-ray the doctors find the increased size of the left ventricle, diagnose the protrusion of the acetabulum, enlargement of the aortic arch. To diagnose Marfan syndrome are often used, Echo that showed mitral valve prolapse, dilatation of the aorta. If there is a suspicion on problems with the aorta, aortography is appointed, for the diagnosis of ectopia of the lens – ophthalmoscopy. In the diagnosis of the syndrome spidery fingers experts compare the disease with others.

Marfan syndrome – treatment

The dolichostenomelia not treated. Symptoms that may occur with the progression of dolichostenomelia, are removed in different ways. The main goal of drug therapy is to prevent complications. If, for example, in the first year of life the child was diagnosed with morfinopodobnyj phenotype and aneurysm of the aorta, immediately prescribe means to prevent its progression. When the diameter of the aorta up to 4 cm prescribed ACE inhibitors, blockers, with a diameter more than 5 cm, surgical intervention. The patient should be constantly observed by a cardiologist.

Treatment of Marfan syndrome is vision correction. The patient to select the right sunglasses, in complex cases using laser or surgical techniques. If your child has marfan syndrome, there are skeletal disorders, the recommended thoracoplasty hip replacement. The treatment consists of metabolic therapy, vitamins, medicines with glucosamine sulfate, succinic acid, too rapid growth – hormones. People with marfanoid phenotype erased form shown physical activity.

Of Marfan’s syndrome – life expectancy

Previously people with a severe form of arachnodactyly short lived, but now the average life expectancy is 40-50 years. It is possible under constant observation of doctors, proper prevention, healthy lifestyle. Life expectancy in the Marfan syndrome in many depends on is conducted or not surgical correction of ophthalmic, articular, cardiac disorders. An integrated approach, timely treatment dolichostenomelia improve the quality of life of the person diagnosed with dolichostenomelia, even with the neonatal form.

Video: disease Marfan

Post Comment