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Marfan syndrome
Medical expert of the article
Last reviewed: 12.07.2025
Marfan syndrome is a hereditary disorder characterized by systemic connective tissue disorder (Q87.4; OMIM 154700). The inheritance pattern is autosomal dominant with high penetrance and variable expressivity. The incidence of diagnosed cases is 1 in 10,000-15,000, with severe forms occurring in 1 in 25,000-50,000 newborns. Boys and girls are affected equally.
[ What causes Morfan syndrome?
In 95% of cases, Morfan syndrome is caused by mutations in the fibrillin protein gene (15q21.1), a glycoprotein involved in the microfibrillar system that provides the basis for elastic fibers of connective tissue. In 5%, mutations are found in genes encoding the synthesis of a2 -chains of collagen (7q22.1), causing the development of a disease with a relatively mild clinical picture. In all patients, a decrease in the number of microfibrils is detected in skin biopsy and fibroblast culture.
Symptoms of Marfan syndrome
Classic Marfan syndrome includes a clinical triad in the form of damage to the cardiovascular system, musculoskeletal system, and visual organ. According to modern diagnostic criteria (Ghent, L996), major and minor criteria for damage to the cardiovascular system are identified.
Ghent criteria for cardiovascular damage in Marfan syndrome (1996)
Major criteria:
- dilatation of the ascending aorta with (or without) aortic regurgitation and involvement of at least the sinuses of Valsalva;
- dissection of the ascending aorta.
Minor criteria:
- mitral valve prolapse with (or without) mitral regurgitation;
- dilation of the pulmonary trunk in the absence of valvular or subvalvular pulmonary stenosis or any other obvious causes before the age of 40 years;
- mitral annular calcification before age 40;
- dilation or dissection of the descending thoracic or abdominal aorta before age 50 years.
Diagnosis of Marfan syndrome
The main method for diagnosing damage to the heart and blood vessels is echocardiography.
Risk factors for aortic dissection in Marfan syndrome:
- aortic diameter >5 cm;
- extension of dilation beyond the sinus of Valsalva;
- rapidly progressive dilation (>5% or 2 mm and 1 year in adults);
- familial cases of aortic dissection.
All patients with Marfan syndrome should undergo annual clinical examination and transthoracic echocardiography. In children, echocardiography is used depending on the diameter and rate of dilation of the aorta. Pregnant women with Marfan syndrome are at risk of aortic dissection if its diameter exceeds 4 cm. In such cases, monitoring of cardiovascular function during pregnancy and labor is indicated.
In the diagnosis of progression of aortic dilation, determination of oxyproline and glycosaminoglycans in daily urine is indicated, the excretion of which increases by 2-3 times.
How to examine?
What tests are needed?
Treatment of Marfan syndrome
Heavy physical activity is contraindicated. Massage and exercise therapy courses are recommended from an early age. 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 guidelines for the treatment of patients with Marfan syndrome:
- in patients of any age with aortic dilation, the greatest prophylactic effect from taking beta-blockers was observed with an aortic diameter of <4 cm;
- Prophylactic aortic surgery should be undertaken if the sinus of Valsalva diameter exceeds 5.5 cm in adults and 5 cm in children or the rate of dilation exceeds 2 mm per year in adults, as well as in familial cases of aortic dissection.
The Bentall operation (aortic root and aortic valve replacement) is indicated as a surgical treatment method.
Prognosis for Marfan syndrome
The prognosis depends on the severity of the damage to the heart and lungs. Disability due to visual pathology. The most common cause of death is damage to the heart and blood vessels. The prognosis for aortic rupture is unfavorable.