Even healthy parents can have sick children. One of the common reasons for this is random mutations of genes. Because of such a mutation, Marfan syndrome can manifest itself, which today does not respond to complete treatment.
Features of the ailment in adults and children
Marfan syndrome is commonly referred to as underdevelopment of connective tissue, obtained in the embryonic or postnatal period, due to collagen defects.
Marfan syndrome is not itself a basis for the award of a disability, however, the latter can be established by the commission in the case of accompanying pathology of serious disorders in the work of the heart, spine and vision systems. It is noted that ectopia of the lens develops in a bilateral character in children under 4 years old.
Marfan syndrome in humans( photo)
Forms of
There is no precise classification of the disease at this time. There are several common forms that depend on the number of systems that are involved in the pathological process:
- Erased .Changes are poorly expressed, up to 2 systems can participate.
- Expressed :
- is limited when slight changes affect one system;
- changes of an expressed nature affect 2 or more systems;
- changes are weak and affect 3 systems;
According to the genetic characteristics, the
- family form is , where the disease is transmitted by inheritance;
- primary mutation , manifested in the family for the first time;
It is also sometimes said about the mild and severe forms of Marfan's Syndrome, the type of inheritance is also important here.
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More details about the characteristics of the Marfan Syndrome will be described in her video by Elena Malysheva:
Classification of
There are also several clinical variants of the disease:
- Directly Marfan's disease with at least three classic signs and family inheritance.
- Marfan syndrome with positive diagnosis, but with erased forms.
- Marfan-like syndrome.
The nature of the course of the disease can be stable and progressive. Next, we will talk about the causes of the Marfan Syndrome.
Causes of
Marfan syndrome is a congenital disease that is transmitted to the next generation in an autosomal dominant type. It arises because of the spontaneous mutation of the FBN1 gene, which is responsible for the synthesis of fibrillin. Fibrillin, in turn, is responsible for the elasticity and contractility of connective tissue. The mutation of this gene disrupts the formation of fibers, leading to a decrease in the strength of the joint.tissue and reduce tolerance to physical exertion.
More than 1000 mutations of the FBN1 gene have now been studied, which makes it possible to distinguish various forms of the disease, but makes it difficult to create a general classification.
About the symptoms and signs of Marfan's Syndrome, we'll talk about it below.
Symptoms
External manifestations
Symptomatic of the syndrome is based on the defeat of the cardiac vascular system, eyes and skeleton, therefore it is diverse, but distinctly visible by external manifestations. So, patients, usually:
- are tall with a short body and thin limbs( dolichostenomelia),
- long gnarled fingers( arachnodactyly),
- , the asthenic physique with a pronounced weakness of muscle tone and a long narrow face( dolichocephaly),
- and also suffer a high arched palate and malocclusion.
From the external manifestations, you can also select:
- joint hypermobility,
- deformation of the chest, which consists in a funnel-shaped or wedge-shaped,
- deformation of the spine such as scoliosis, subluxation and dislocation of the cervical spine, flat feet and protrusion of the acetabulum.
changes in the cardiovascular system
Since the syndrome leads to changes in the ascending aorta and the other structures of the cardiovascular system, the disease is often accompanied by:
- aneurysm;
- mitral valve lesions;
- by tachycardias;
- with atrial fibrillation;
- by infective endocarditis;
- progressive heart failure, which leads to infant death;
Patologochiskie processes in view, and other organs also
Marfan syndrome accompanied by pathological processes in organs of vision, for example:
- myopia;
- flattening of the cornea;
- strabismus;
- by a change in the caliber of blood vessels of the cellulose.
Other disorders of
Other patients may suffer damage from other systems, for example:
- meningocele,
- spontaneous pneumothorax,
- atrophic striae,
- bladder and uterine prolapse,
- ectopic kidney,
- varicose veins and others.
Since the disease is accompanied by the release of adrenaline, in young patients may develop anxiety or even mental endowments.
On how to determine the presence of Marfan's Syndrome, read below. Marfan Syndrome Diagnosis
diagnosis becomes based on family history, if pathology is present in it, as well as on the basis of physical examination, echocardiography, electrocardiography, ophthalmology and radiology. The fetal disease can be assumed on the basis of molecular genetic analyzes and laboratory tests.
Criteria Diagnostic criteria can be considered:
- dilation of the aortic root;
- ectopic lens;
- thoracic deformation;
- spondylolisthesis;
- other states;
Fenotypic testing can also be used for diagnosis. It determines the ratio of the brush and height, the length of the middle finger and the Varga index for the physique.
Instrumental Studies
Instrumental studies show:
- ECG.Violations of heart rhythms, increased size of the left ventricle, myocardial hypertrophy.
- Echocardiography. Valvular regurgitation, prolapse, aortic dilatation.
- X-ray. Extensions in the root and arch of the aorta, enlarged heart size.
- CT.Dilation and aneurysm of the aorta.
- Aortography. Aneurysm or aortic bundle.
- Ophthalmoscopy. Ectopia of the lens.
- MRI of the vertebral column. Ectasia of the meninges.
Differential diagnostics with diseases like homocystinuria, Bils syndrome, Ehlers-Danlos syndrome, family ectopia of the lens and others similar in manifestation are mandatory.
Treatment of
Since the disease can not be cured to the end, treatment activities are aimed at improving the quality of life.removal of negative symptoms and prevention of complications.
Therapeutic
Therapeutic treatment of Marfan's Syndrome is completely reduced to the conduct of a healthy lifestyle.
- Quenching,
- normal power and sleep mode,
- avoiding stresses,
- moderate physical load.
All this contributes to the improvement of well-being and the maintenance of the immune system in a normal state.
Medication
Drug therapy is symptomatic. If the diameter of the aorta is expanded to 40 mm, doctors prescribe beta blockers, an ACE inhibitor and a calcium antagonist.
A good result was shown by therapeutic techniques such as pathogenetic collagen normalizing therapy, metabolic therapy and vitamin therapy. Other medications are prescribed depending on the patient's condition.
Surgical
Surgical treatment is performed depending on the lesion of the systems.
- Aortic reconstruction, as well as mitral prosthetics, can be used.valve.
- If a pregnant woman has Marfan syndrome, an early cesarean section is required to prevent the development of complications in her and the child.
- Ophthalmic disorders are treated by the selection of glasses and contact lenses, laser treatment of cataract and glaucoma, removal of the displaced lens with replacement by implant.
- If the disturbance affected the skeleton, operations on stabilization of the spine, thoracoplasty, and endoprosthetics may be prescribed.
About how, with the help of surgical intervention to a patient with Marfan's Syndrome returned vision, will tell this video:
Prevention
There is no specific prevention of Marfan syndrome. Prevent the emergence of this pathology in a future child can, if you visit genetic studies of both parents, and monitor the pregnancy from the very beginning and follow all the prescriptions of the doctor.
Complications of
Because people with Marfan syndrome are accompanied by serious lesions of a number of systems, the list of complications is extremely large: from scoliosis to malfunction in the lungs. The most severe complications can be considered:
- disturbances of the structures of the walls of the aorta;
- damage to the heart walls;
- mitral valve prolapse;
- solid palate;
The most terrible complication of the syndrome is sudden cardiac death, which especially accompanies the disease in patients of childhood. On the prognosis and life expectancy of the Marfan Syndrome, read below.
Forecast
Prediction depends on changes in the cardiovascular system, the degree of damage to the skeleton and eyes.
- Statistics show that approximately 90% of patients do not live up to 50 years.
- Modern medicine allows you to increase life expectancy up to 70 years, however, only for patients with a stable form.
On how a man with Marfan's Syndrome looks, he will tell the video below: