What happens in the body
Fibrillin-1 forms microfibrils - the thinnest fibers that serve as a framework for elastic structures. When a gene changes, the protein does not work correctly, the tissue loses its elasticity and is less resistant to stretching. In addition, growth factor regulation is disrupted, which enhances changes in the vascular wall. The ascending aorta, where blood pressure is greatest, suffers the most: its root gradually expands. At the same time, the ligaments that hold the lens and the joint capsules weaken, and the costal cartilages grow excessively, deforming the chest.
- Change in fibrillin-1 gene
- Inheritance from a parent with a one in two chance
- About a quarter of cases are a new mutation
- Damage to the aorta, eyes, skeleton, lungs
- The severity of symptoms varies even within the same family
How it manifests itself
Signs are usually noticeable during childhood and intensify during growth. Characterized by tall stature, disproportionately long arms and legs, thin elongated fingers, arm span greater than height. Pectus excavatum or keeled deformity of the chest, scoliosis, flat feet, excessive joint mobility, narrow high palate and crowded teeth are common. Stretch marks appear on the skin without gaining weight. On the part of the eyes, severe myopia and lens displacement are typical. From the side of the heart - dilatation of the aortic root and mitral valve prolapse.
- Tall and long limbs
- Long thin fingers, flexible joints
- Chest deformity, scoliosis
- Narrow palate and crowded teeth
- Stretch marks on the skin without weight change
- Severe myopia, lens displacement
- Aortic root enlargement, mitral valve prolapse
- Tendency to spontaneous pneumothorax
Why is the aorta dangerous?
The expansion of the aortic root occurs slowly and does not cause any sensations, so you cannot focus on how you feel. When the diameter reaches critical values, the risk of delamination—rupture of the inner membrane, in which blood penetrates into the thickness of the wall—increases sharply. This condition develops suddenly, causes severe pain in the chest or back and is life-threatening. The modern approach is to avoid this: the aorta is measured regularly and operated on plannedly when the diameter approaches the threshold. Planned surgery is much better tolerated than emergency surgery.
- Asymptomatic dilatation of the aortic root
- Risk of delamination and rupture
- Aortic valve insufficiency
- Mitral valve prolapse and insufficiency
- Increased risk during pregnancy
- Elective surgery is much safer than emergency surgery
Diagnostics
The diagnosis is made by a combination of signs, assessing the condition of the aorta, eyes, skeleton and family history. Echocardiography with measurement of the aortic root is mandatory, which is compared with height, weight and age. Computed tomography or magnetic resonance imaging is used to evaluate the entire aorta. The ophthalmologist examines the eye with a dilated pupil to see displacement of the lens, which would be missed without such an examination. Genetic testing confirms the diagnosis and helps to examine relatives. Other hereditary connective tissue diseases give similar manifestations, and the doctor distinguishes between them.
- Echocardiography with aortic root measurement
- CT or MRI of the thoracic and abdominal aorta
- Examination by an ophthalmologist with pupil dilation
- X-ray of the spine and chest for deformities
- Genetic study of the fibrillin-1 gene
- Examination of first-degree relatives
- ECG and daily monitoring for complaints of heartbeat
Treatment and lifestyle
The cause cannot be cured, but changes can be significantly slowed down. The doctor selects drugs that reduce the load on the aortic wall, often from the group of beta-blockers or angiotensin receptor blockers, and they are taken constantly. A reasonable approach to physical activity is important: swimming at a calm pace, walking, cycling without competition are suitable, and heavy lifting, strength exercises to failure, contact sports and sudden straining are excluded. Pregnancy requires separate planning with a cardiologist, because the load on the aorta increases. Smoking is prohibited due to the risk of pneumothorax.
- Constant use of medications that reduce the load on the aorta
- Annual echocardiogram or more frequently as directed by your physician
- Elective surgery on the aorta when the threshold diameter is reached
- Moderate aerobic exercise without competition
- Avoiding heavy lifting and contact sports
- Planning pregnancy with a cardiologist
- Quitting smoking
- Regular examinations by an ophthalmologist and orthopedist
