Isaiah Austin Suffers From Marfan Syndrome: Know More About the Disease

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By Ma Evelyn Castino Quilas | June 24, 2014 1:15 PM EST

Isaiah Austin, the former Baylor center who declared for the 2014 NBA Draft, has a basketball career put to a halt after being diagnosed of having a genetic disorder called Marfan syndrome.

USA Today cited the 20-year-old basketball star, during his sophomore year at Baylor, is blind in his right eye as a result of a detached retina.

With a wingspan of 7.0 1/4", Austin has the longest among the prospects at the NBA draft. But with the rigors of the NBA, he is at risk of dying due to Marfan syndrome.

Marfan Syndrome

Mayo Clinic defined Marfan syndrome as an inherited genetic disorder that affects the connective tissues that hold all the body cells and organs altogether. This disease affects the person's heart, blood vessels, eyes, and skeleton. People with this disease can have mild to severe damage. When the heart or blood vessels are affected, the situation can be fatal. About one in every 5,000 men and women of all races and ethnic groups can have Marfan syndrome.

Signs of Marfan Syndrome

Marfan Foundation said each person has a slightly different experience with Marfan syndrome. Some signs of the disease are easier to spot than the others. For instance, Austin's long arms and fingers are signs of Marfan syndrome. Other signs include long legs, tall and thin body type, curved spine, chest inks in or sticks out, flexible joints, flat feet, crowded teeth, and stretch marks on the skin that are not related to weight gain or loss.

Other signs are harder to distinguish such as heart problems, particularly those related to the aorta and sudden collapse of the lungs. People with Marfan syndrome also have eye problems such as severe nearsightedness, dislocated lens, detached retina, early glaucoma and eye cataracts. In the case of Austin, the detached retina which caused the blindness of his right eye is a sign of Marfan syndrome.

Causes of Marfan Syndrome

Mayo Clinic noted Marfan syndrome is caused by a gene defect, which lets the body to produce a protein that gives elasticity and strength to the connective tissues of the body. This disorder is mostly inherited from the abnormal gene of a parent with the same disease. There is 50 percent chance of inheriting the defective gene from an affected parent to each child.

Meanwhile, a new mutation spontaneously develops for about 25 people with Marfan syndrome whose abnormal gene does not come from either mother or father.  

Complications

It is also stated there is a wide range of complications that can be developed with Marfan syndrome since this disease affects almost any part of the body. The most dangerous complications involve the heart and blood vessels in the form of aortic aneurysm, aortic dissection and valve malformations. The eye complications involve lens dislocation, retinal problems and early glaucoma or cataracts. Skeletal complications of the disease include scoliosis and protruding or sunken breastbone. During pregnancy, Marfan syndrome pumps more blood than normal causing fatal risk of dissection or rupture.  

Tests And Diagnosis

Mayo Clinic cited diagnosing a Marfan syndrome can be quite challenging due to the similarity in signs and symptoms in many connective tissue disorders. For people with suspected Marfan syndrome, they are recommended to undergo some tests for the heart such as echocardiogram, computerized tomography scans and magnetic resonance imaging.

People with suspected Marfan syndrome may also be also required to undergo eye exams such as slit-lamp exam and eye pressure test. Genetic testing is also recommended if findings from standard exams are not clear cut.

Treatment And Drugs

Since Marfan syndrome has no cure, people with this disease rarely live past 40 years old. Currently, regular monitoring and modern treatment makes it possible for people with Marfan syndrome to live a more normal lifespan.

Mayo Clinic noted beta blockers are often prescribed by doctors to make the heart beat more slowly and with less force to prevent the aorta from enlarging. Eye glasses and contact lens may also effectively treat dislocated lens. Surgical and other procedures may also be recommended depending on the signs and symptoms.

For instance, aorta repair can be done for people with Marfan syndrome whose aorta has diameter that enlarges quickly or reaches an abnormal size.

Children and adolescents with scoliosis may also be recommended to have custom-made back brace. People with the disease who has sunken breast and has difficulty breathing may undergo a surgery.

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