Three months ago, Isiah Austin featured in news everywhere. The high school star and college basketball player’s dream of going pro was quashed when a mandatory pre-draft physical exam revealed that he had Marfan’s syndrome and his career came to an end.
Heard something similar before? Probably about Flo Hyman, a silver medallist on the 1984 US women’s volleyball team who died of an aortic rupture while playing professional volleyball in 1986 secondary to Marfan’s syndrome. Also, Florida State basketball player Ronalda Pierce died in 2004 from an aneurysm that may have resulted from Marfan’s syndrome.
So, what is this disease that can kill young, well-trained athletes at high school, college or professional level and end budding careers?
Marfan’s syndrome is a genetic disorder that affects one out of every 5,000 men and women. It affects the connective tissue that holds the body together and provides support to many structures throughout the body. Connective tissues play a large part in our growth and development.
In Marfan’s syndrome, the connective tissue isn’t normal. As a result, many body systems are affected, including the heart, blood vessels, bones, tendons, cartilage, eyes, nervous system, skin and lungs.
When the gene that encodes the structure of fibrillin and the elastic fibres is defected, Marfan’s syndrome occurs. This gene is a major component of connective tissue and is called fibrillin-1 or FBN1.
Most cases of Marfan’s syndrome are genetic and the pattern is called “autosomal dominant,” which means that it occurs equally in men and women and can be inherited from one parent with Marfan’s syndrome also. Children of parents with this syndrome are at 50 percent chances of getting it.
A new gene defect with an unknown cause can also be blamed for about 25 percent cases of Marfan’s syndrome. It is also referred to as a “variable expression” genetic disorder because not everyone with Marfan’s syndrome has the same symptoms to the same degree.
The syndrome may not be diagnosed until adolescence or young adulthood even though it is present at birth.
Marfan’s syndrome is a common occurrence with 1 in 5,000 cases being reported. It has been found in people from all races and ethnic backgrounds.
Parents can avoid missing a potentially life-saving diagnosis of Marfan’s syndrome in their athletic children by being mindful of some key warning signs:
Physical Appearance- People suffering from Marfan’s syndrome are very tall and thin; their arms, legs, fingers and toes are too long compared with the rest of the body. Their spine may be curved and their breastbone may either stick out or be indented. Often, their joints are weak and they easily dislocate.
Dental and Bone Problems- People suffering from this syndrome usually have a dental history of tooth extractions or palate expanders for a narrow palate. They also have a history of bone problems such as flat feet, hernias, and bone dislocations.
Eye Problems- More than 50 percent of patients with Marfan’s syndrome have vision problems such as nearsightedness (blurring of objects far away), lens subluxation (lens of the eye moves away from its typical position) or a difference in the shape of the eye.
Flexibility Issues- Patients with Marfan’s syndrome may never have had to work on their flexibility, but they always appear flexible. Excessive flexibility is one of the indicators of this medical condition.
Heart Problems- According to the Cleveland clinic, the heart’s valves, especially the mitral valve, can be affected by Marfan’s syndrome. The valve leaflets become floppy and do not close tightly, allowing blood to leak backwards across the valve (mitral valve prolapse, also called MVP). When MVP progresses, the condition is called mitral valve regurgitation.
Blood Vessel Changes- Marfan’s syndrome causes the walls of blood vessels to become weak and dilated. These blood vessel changes often affect the aorta, the major artery that carries blood from the heart to the rest of the body. When the walls of the aorta weaken or stretch, there is an increased risk of aortic aneurysm, aortic dissection or rupture (bursting).
Lung Changes- The changes in lung tissue that occur with Marfan’s syndrome increase the risk of asthma, emphysema, bronchitis, pneumonia and collapsed lung.
Marfan’s syndrome can potentially be fatal. The most common cause of death for those with the disorder is aortic dissection. Because it affects the body’s connective tissues, it implies that a small tear in the walls of the heart and aorta can become bigger and cause the aorta to grow wider, resulting in an aneurysm.
Marfan’s syndrome cannot be treated, however, with early detection and treatment, the progress of complications can be slowed. Doctors carry out routine heart tests to monitor the patients’ heart health and in some cases, surgery may be done to replace the affected portion of aorta or the aneurysm in order to prevent aortic dissection.
Additionally, there are now medicines, such as beta blockers and angiotensin receptor blockers, which can help to delay the development of an aortic aneurysm.
While many athletes with these symptoms do not have Marfan’s syndrome, as a parent or coach, you can't take the risk. The consequences are too great and it is far easier to simply have proper evaluation.
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