Marfan syndrome (MFS) is a genetic disorder of the connective tissue. The level to which individuals are affected changes. Individuals with Marfan have a tendency to be tall, and lean, with long arms, legs, fingers, and feet. They also generally have elastic joints and scoliosis. The most serious complications involve the heart and aorta with an increased risk of mitral valve prolapse and aortic aneurysm. Other commonly affected areas include the lungs, bones, eyes, as well as also the covering of the spinal cord.
Marfan is an autosomal dominant disease. About 75 percent of the period the status is inherited by a parent while 25 percent of the time it’s a brand new mutation. It entails a mutation in the gene which produces fibrillin which leads to abnormal connective tissues. Diagnosis is usually based on the Ghent standards.
There’s absolutely no cure for the Marfan syndrome. Lots of individuals have a normal life expectancy with appropriate treatment.Management frequently includes using beta-blockers like propranolol, or if that’s not taken then calcium channel blockers or even ACE inhibitors. Surgery may be required to fix the aorta or substitute a heart valve. It’s encouraged that difficult exercise is averted.
Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.
People with the Marfan syndrome are usually tall and thin with disproportionately long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your aorta — the large blood vessel that carries blood from your heart to the rest of your body — is affected, the condition can become life-threatening.
Symptoms of Marfan syndrome
The signs and symptoms of Marfan syndrome differ considerably, even among members of the exact same family. Some people experience only moderate effects, while others create life-threatening complications. Typically, the illness will worsen with age.
- Tall and slender build
- Disproportionately long arms, legs and fingers
- A breastbone that protrudes outward or dips inward
- A high, arched palate and crowded teeth
- Heart murmurs
- Extreme nearsightedness
- An abnormally curved spine
- Flat feet
Causes
Marfan syndrome is caused by a flaw in the gene that permits the human body to generate a protein which can help give connective tissues its strength and elasticity.
Many individuals with Marfan syndrome inherit the abnormal gene from a parent that has the disease. Each child of an affected parent has a 50-50 chance of inheriting the faulty gene. About 25 percent of the men and women who have the Marfan syndrome, the strange gene does not come from either parent. In such scenarios, a fresh mutation develops incrementally.
