Overview – Marfan syndrome is an inherited disorder of connective tissue. There is a defect in the gene that enables your body to produce a protein that gives connective tissue its elasticity and strength.
The clinical severity ranges from isolated features to neonatal presentation of severe and rapidly progressive disease involving multiple organ systems.
Marfan syndrome is almost exclusively inherited in an autosomal dominant manner. In autosomal dominant inheritance, the gender of the children (whether they are sons or daughters) does not matter. The chance is 50/50 for them to inherit the autosomal genes.
Symptoms and signs –
- People with Marfan syndrome have joint laxity and excess linear growth of the long bones. They are taller than predicted by their genetic background.
- Long arms, legs, and fingers.
- Heart murmurs.
- Pectus carinatum – The chest wall deformity wherein the sternum (breastbone) sticks out more than usual.
- An abnormally curved spine.
- High arched palate.
- Foot pain, and low back pain.
- Aortic aneurysm, aortic regurgitation, aortic dissection – Aorta in Marfan syndrome tend to be stiffer and less distensible, and these changes increase with age.
- Valve malformations – Valves are weaker because of the lack of healthy connective tissue. This may lead to heart failure.
- Eye problems – Ectopia lentis, a condition wherein lens within the eye is displaced upward; retinal detachment; cataracts; glaucoma (increased pressure in the eye).
- Kyphosis and scoliosis – These are abnormal curves in the spine.
- Some people with Marfan syndrome have changes in the lungs that can predispose to a spontaneous pneumothorax (sudden onset of the collapsed lung).
Diagnosis of Marfan syndrome –
- The initial evaluation includes a combination of symptoms and family history.
- Heart tests such as echocardiography, computerized tomography (CT) scans, and magnetic resonance imaging (MRI) are done.
- Eye tests such as a slit-lamp exam, pressure test are done to look for lens dislocation and glaucoma.
- The diagnosis is confirmed by genetic testing.
Medical management –
- Management focuses on checking regularly for progression and complications of the disorder.
- Beta-blocker is given for adults with Marfan syndrome and aortic aneurysm to reduce the rate of aortic dilatation unless contraindicated.
- Depending on the size of the aortic diameter, signs, and symptoms decision is made to repair the aorta by surgery.
- Bracing and surgery are done in some cases of scoliosis treatment.
- Surgical repair is done for lens dislocation.
Lifestyle management –
- Follow a healthy diet recommended by your doctor. People with Marfan syndrome are advised to avoid contact sports, exercise to exhaustion, weight lifting, sit-ups, pull-ups, push-ups, ice hockey, windsurfing, surfing, rock climbing, scuba diving. Low-intensity recreational exercise is probably permissible. Talk to your doctor about the exercise program that you need to follow.
- Keep all your appointments with your doctor. Your doctor will regularly check for progression and complications of the disorder. Your doctor will regularly monitor the size and condition of your aorta.
- People with Marfan syndrome should see an eye doctor every year.
- Genetic testing should be done for all family members.
- If you planning to start a family then talk to your doctor about preconception genetic counseling.