Isaiah Austin 2014 NBA prospect career ended due to Marfan’s, how do I know if I have Marfan’s?

 These are the type of issues that sports cardiologists deal with in order to make sure that all athletes are healthy enough to compete at a high level. Genetic conditions like Marfan’s can go undiagnosed throughout an athlete’s career which makes them at high risk for having sudden cardiac death. Scientists and organizations can debate on the need for screening athletes but the fact remains that such an event as sudden cardiac death leaves communities and families traumatized and helpless. So how can Marfan’s Syndrome cause sudden cardiac death?

Well, let me tell you briefly about Marfan’s syndrome and some of the symptoms that people need be aware of. Marfan’s syndrome is a genetic disorder that affects the connective tissues which can affect multiple organs.  It equally affects woman and men with no geographic or ethnic bias. One of the most prominent features is that individuals grow above average height and can have slender limbs, long fingers and toes, and persons arms may be disproportionately long with thin wrists. It can seriously affect the eye and vision. Isaiah Austin did have issues with his eyes back in eighth grade and appeared to have lost his sight in one eye. But there is no one symptom that can diagnose Marfan’s. The most serious sign and symptoms associated with Marfan’s syndrome involves the cardiovascular system. Symptoms such as shortness of breath, palpitations, chest pain, back pain or shoulder pain can be linked to Marfan’s. There can be severe be regurgitation of aortic and mitral valve that can lead to heart failure.  The most catastrophic event can be aortic dissection leading to sudden cardiac death and present as tearing sensation. This would be a surgical emergency. Therefore, it is imperative to diagnose Marfan’s early in order to monitor the size of the aorta and to look for aortic aneurysm throughout one’s lifetime.  Women with Marfan syndrome, should receive a thorough assessment prior to conception and have imaging done throughout pregnancy to assess the aortic root diameter.  Because there is no one sign or symptom that diagnosis Marfan’s syndrome, genetic testing is needed. If a family member has Marfan’s or you think you may have some of the signs and symptoms, it is definitely worthwhile to have yourself evaluated and discuss it with your physician. Please call us or make an appointment. As always, feel free to comment or email us with questions.