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Marfan syndrome
Last reviewed: 23.04.2024
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Morfan syndrome (Marfan) is a hereditary disease characterized by systemic involvement of connective tissue (Q87.4; OMIM 154700). The type of inheritance is autosomal dominant with high penetrance and various expressiveness. The frequency of diagnosed cases is 1 per 10 000-15 000, heavy forms - 1 for 25 000-50 000 newborns. Boys and girls get sick with the same frequency.
[What causes Morfan syndrome?
In 95% of cases of Morphan syndrome is caused by mutations in the fibrillin protein gene (15q21.1) - a glycoprotein involved in the microfibrillar system, which provides the basis for the elastic fibers of connective tissue. In 5%, mutations are found in genes encoding the synthesis of a 2- chain of collagen (7q22.1), causing the development of the disease with a relatively easy clinical picture. All patients in the skin biopsy and fibroblast culture are shown to decrease the number of microfibrils.
Symptoms of Marfan syndrome
The classical Marfan syndrome includes a clinical triad in the form of damage to the cardiovascular system, the musculoskeletal system, and the organ of vision. According to modern diagnostic criteria (Ghent, L996), large and small criteria for the defeat of the cardiovascular system have been identified.
Ghent-criteria for the defeat of the cardiovascular system in the Marfan syndrome (1996)
Great criteria:
- dilatation of the ascending aorta with (or without) aortic regurgitation and involvement, at least, of the sinuses of Valsalva;
- stratification of the ascending aorta.
Small criteria:
- mitral valve prolapse with or without mitral regurgitation;
- dilatation of the pulmonary trunk in the absence of valvular or subvalvular pulmonary stenosis or any other obvious cause at the age of up to 40 years;
- Calcification of the mitral ring at the age of up to 40 years;
- dilation or stratification of the descending thoracic or abdominal aorta at the age of up to 50 years.
Diagnosis of Marfan syndrome
The main method for diagnosing the heart and vascular lesions is DEHC.
Risk factors for aortic dissection in Marfan syndrome:
- aortic diameter> 5 cm;
- the spread of dilatation beyond the sinus of Valsalva;
- fast-progressive dilatation (> 5% or 2 mm and year in adults);
- family cases of aortic dissection.
Every patient with Marfan syndrome should undergo clinical examination and transthoracic echocardiography every year. In children EchoCG is used depending on the diameter and rate of dilatation of the aorta. Pregnant women with Marfan syndrome have a risk of aortic dissection if their diameter exceeds 4 cm. In such cases, monitoring of cardiovascular function during pregnancy and childbirth is shown.
In the diagnosis of the progression of dilatation of the aorta, the determination of oxyproline and glycosaminoglycans in daily urine is shown, the excretion of which increases 2-3-fold.
How to examine?
What tests are needed?
Treatment of Marfan syndrome
Contraindicated heavy physical activity. From an early age, the courses of massage and exercise therapy are shown. Surgical treatment of eye pathology, heart valves and aneurysms. The risk of aortic dissection in patients with Marfan syndrome can be reduced by using beta-blockers, which reduce systolic pressure in the aorta, which formed the basis for the development of clinical recommendations for the treatment of patients with Marfan syndrome:
- in patients of any age who have aortic dilatation, the greatest prophylactic effect of beta-blockers is observed with aortic diameter <4 cm;
- preventive surgical intervention on the aorta should be undertaken if the diameter of the Valsalva sinus exceeds 5.5 cm in adults and 5 cm in children or the rate of dilatation exceeds 2 mm per year in adults, as well as in family cases of aortic dissection.
As a surgical method of treatment, Bentall's operation (aortic and aortic valve root repair) is shown.
Prognosis for Marfan syndrome
The prognosis depends on the severity of the heart and lungs. Invalidation due to vision pathology. The most frequent cause of death is damage to the heart and blood vessels. The prognosis for aortic rupture is unfavorable.