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Marfan Syndrome: What Is It? Symptoms, Treatment

Marfan Syndrome: What Is It? Symptoms, Treatment

Did you know that U.S. Olympic volleyball star Flo Hyman died from a ruptured aorta, the result of Marfan syndrome?

The six-foot, five-inch Hyman died in January 1986 at the age of 31 during a match in Japan.

An article posted on Scientific American reveals that Marfan syndrome makes athletes vulnerable to an aortic aneurysm. Intense physical exertion increases blood pressure and could lead to an aortic aneurysm.

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Isaiah Austin’s decision to withdraw from the National Basketball Association Draft in 2014 might have saved his life, the article points out. Austin has Marfan Syndrome. The disorder likely contributed to his seven-foot-one-inch height. But he was at high risk for a thoracic aortic aneurysm. This can strike without warning and is often fatal if not monitored closely.

He recently announced through Instagram that his doctor had cleared him to play basketball again.

Marfan syndrome is a disorder that affects the body’s connective tissue. A French doctor, Antoine Marfan,discovered the disorder in 1896. The connective tissue holds all the body’s cells, organs, and tissue together. It plays an important role in helping the body grow and develop.

Marfan Syndrome Triggered by Gene Mutation

It could be fatal if it remains undiagnosed, just like what happened to Hyman. Marfan syndrome occurs once in every 10,000 to 20,000 individuals. It affects men, women, and children of all races and ethnic backgrounds, explains the National Human Genome Research Institute.

It can manifest between infancy and adulthood. While it can be fatal early in life, the majority of affected individuals survive into mid or late adulthood.

The connective tissue is made up of proteins. The syndrome is caused by a defect or mutation in the gene that tells the body how to make the protein fibrillin-1. The mutation fosters an increase in another protein called transforming growth factor beta, or TGF-β.

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The increased production of the TGF-β causes problems in the body’s connective tissues. As a result, the features and medical problems related to the syndrome manifests in the patient.

Marfan Syndrome Symptoms?

Those with Marfan syndrome share similar physical features. They are often much taller than their peers and have disproportionately long arms and legs. Their fingers and toes are usually long and thin. They also have loose and flexible joints.

Marfan syndrome patients also have long, thin face; deep-set eyes; a small lower jaw; a high, arched roof the mouth; and crowded teeth. They may be nearsighted or dislocated lenses. Another physical sign is having an abnormally curved spine or a different chest shape.

Many people with the disorder develop stretch marks on their skin. These occur at any age but do not pose any health risk.

Marfan Syndrome Treatment

More importantly, there more serious symptoms that affect the heart and blood vessels; the nervous system; and the lungs.

The syndrome results in the weakening of the aorta. The aorta is the large artery that carries blood from the heart to the rest of the body. A weakening in the aorta increases the risk of heart problems or in some cases, sudden death. In some cases, leaks created in certain valves might cause shortness of breath, fatigue, and palpitations.

There’s more. Marfan syndrome also weakens a membrane called dura. This membrane protects cushions, nourishes, and supports the brain and spinal cord. A weak dura could cause mild discomfort. It may also cause pain in the abdomen; or pain, numbness, or weakness in the legs.

Sometimes, people with Marfan syndrome have sleep-related breathing disorders such as snoring or sleep apnea. Sleep apnea leads to brief periods when the person stops breathing.

In addition, there is no cure for Marfan syndrome. But doctors can treat almost all of its symptoms. In the past, most people with the disorder couldn’t live past 40 years old.

Nowadays, people diagnosed early could get good medical care. They could also have the same lifespan as everyone else.

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