Marfan syndrome refers to a hereditary disease where the body’s connective tissue is affected. The tissue comprises fibers that hold together a person’s organs, cells, and tissue. It provides strength and flexibility to these structures. Connective tissue is also essential for the proper growth and development of the body. The most common organs or structures affected by the disorder are the eyes, skeleton, blood vessels, and heart. The bones, joints, skin, nervous system, and lungs are also affected. Marfan syndrome can become life-threatening if the aorta, which distributes blood to the entire body, is enlarged (an aneurysm). Vision is also affected when the lens gets dislocated in either one or both eyes.
Also Known As
- Marfan’s syndrome
Causes & Risk Factors
FBN1 gene mutations that code for fibrillin-1, a protein, are said to cause Marfan syndrome. This protein assists the connective tissue to maintain strength and elasticity. When changes occur, a protein by the name TGF-β increases, leading to weakened connective tissue, which can be stretched, distorted, and even get torn. The eyes' retina or lens, for instance, may become separated from its usual attachments. Children inherit the abnormal gene from their parents. Sometimes, children may develop the abnormality without inheriting it from a parent.
The main risk factor is inheritance of the syndrome from a parent with the disorder. Both male and female children are affected equally. The syndrome also affects all ethnic and racial groups equally.
Signs & Symptoms
The signs and symptoms vary from mild to severe, and in many cases, the symptoms are not evident in childhood. Usually, they will manifest in adulthood. Many people with the condition never know they have it. In some children, many features may become evident at birth or in childhood, while in others, the features may be few when they are young but progress to severe symptoms in adulthood. In children, these symptoms manifest differently from adults and may include:
- Flat feet
- Joint laxity
- A curved spine
- Crowded teeth
- Tall and thin body
- Aortic root dilation
- Pulmonary disease
- Retinal detachment
- Mitral valve prolapse
- Long arms, fingers, and legs
- Abnormal appearance of the face
- Poor healing of scars and wounds
- Displaced lens in one or both eyes
- Refractive errors such as nearsightedness
- Chest that is shaped abnormally and severe chest pain
Marfan syndrome must be diagnosed as soon as possible for early treatment and to avoid potentially life-threatening complications. It’s a challenging disease to diagnose because of its similarity with other connective tissue disorders. Family members may also not be affected the same way. A patient may have some of these symptoms, but which may not be enough to make a diagnosis. Diagnosis is made through:
- Family and patient’s health history
- Physical examination for symptoms affecting the eyes, heart, bones, blood vessels, etc
- Dilated eye examination where the ophthalmologist gives the child a complete eye exam. The doctor can use a slit-lamp exam to see if the lens has dislocated, if there is a retinal detachment, or the presence of cataracts
- An electrocardiography test to record the heart’s electrical activity. If there are any abnormal rhythms, the test will show it
- Imaging tests such as MRI and CT scan for pictures of abnormal joints and bones
- Echocardiography which uses sound waves to create pictures of the heart in motion
- FBN1 gene testing which checks for the abnormal gene through a blood test
No cure exists for Marfan syndrome, but the condition is managed to prevent complications from developing. Treatment depends on the child's general health, age, the severity of disease, and symptoms. The doctor will treat the affected organs. A multidisciplinary team is needed to treat the child. For instance, an ophthalmologist will treat the eye while a pediatric cardiologist treats heart problems.
Beta-blockers are medicines that ease the work of the heart. Dosage is increased as the child grows. Other drugs help lower blood pressure to prevent the aorta's enlargement and decrease the risk of rupture and dissection. The child can be treated with braces to help with the spine’s abnormal curve. Myopia is treated with glasses or contact lenses.
Surgery is required to repair a damaged aorta. It can be an emergency or planned. The surgeon can also repair the heart’s valves. Some children may need a heart transplant. An orthopedic surgeon may treat bone and joint issues through surgery. The ophthalmologist may perform surgery to treat retinal detachment, lens dislocation, glaucoma, and cataracts.
Prognosis & Long-Term Outlook
Previously, patients hardly lived beyond 40 years old. Today, people with Marfan syndrome can live for more than 70 years. Early diagnosis and treatment are essential because the disorder can progress to severe complications.
Prevention & Follow Up
To prevent Marfan syndrome’s complications, regular monitoring is recommended. This helps to keep track of any progressive damage to structures. Should damage be evident on the aorta, preventive surgery is scheduled to repair it. The child should also undergo a regular or annual heart, eyes, and bones check-up. Yearly check-ups involve imaging tests, echocardiography, and eye examination. If aortic dissection and rupture can be prevented, the child’s life span will be expanded.