What is Marfan Syndrome?
Marfan Syndrome is a genetic disorder that affects the body's connective tissue, which provides support and structure to other tissue and organs. This condition can impact various parts of the body, including the heart, blood vessels, bones, joints, and eyes.
Symptoms
People with Marfan Syndrome often exhibit a range of symptoms, which can vary in severity. Common signs include:
- Tall and slender build
- Disproportionately long arms, legs, fingers, and toes
- Curved spine (scoliosis)
- Chest that sinks in or sticks out
- Flexible joints
- Flat feet
- Crowded teeth
- Stretch marks not related to weight changes
- Heart murmurs
- Extreme nearsightedness
Causes
Marfan Syndrome is caused by a defect in the FBN1 gene, which is responsible for the production of fibrillin-1, a protein that is crucial for the elasticity and strength of connective tissue23. This disorder is typically inherited in an autosomal dominant pattern, meaning a child has a 50% chance of inheriting the condition if one parent has it.
Complications
The complications of Marfan Syndrome can be serious and include:
- Cardiovascular issues: Aortic aneurysm, aortic dissection, and valve malformations.
- Eye problems: Lens dislocation, retinal detachment, early-onset glaucoma, and cataracts.
- Skeletal issues: Scoliosis, chest deformities, and flat feet.
- Pregnancy complications: Increased risk of aortic dissection due to the additional strain on the heart and blood vessels.
- Diagnosis
- Diagnosing Marfan Syndrome involves a thorough physical examination and medical history review. Tests may include:
Treatment
While there is no cure for Marfan Syndrome, treatments focus on managing symptoms and preventing complications. These may include:
- Medications: Beta-blockers or other drugs to reduce strain on the aorta.
- Surgery: Procedures to repair the aorta, correct chest deformities, or address eye problems.
- Regular monitoring: Frequent check-ups with specialists to monitor the condition and adjust treatments as needed.
- Living with Marfan Syndrome
- Living with Marfan Syndrome requires ongoing medical care and lifestyle adjustments. Regular check-ups with a team of specialists, including cardiologists, ophthalmologists, and orthopedic surgeons, are essential to manage the condition effectively.