Isaiah Charles Austin was one of the most highly touted recruits in the country. He had attended Grace Preparatory Academy in Arlington, Texas. The senior standout averaged a double double and was able to be represented in the 2012 McDonald’s All-American game, 2012 Adidas Nations Camp, and 2012 Jordan Brand Classic. His ranking soared after this season as he was the number 3 overall recruit according to ESPN. And this allowed him to have offers from almost every power 5 school in the nation. He ultimately decided to go to Baylor. The Texas native continued to have success at the college level, where he was able to be part of the Big 12 All-Rookie team, Big-12 All Defensive team, and Third Team All- Big 12. He was even able to be a key contributor to the NIT championship team in 2013. Everything was falling into place for Isaiah, as the NBA was very much in his sights after two years at Baylor; until it wasn’t.
Just days before the 2014 NBA draft, where Isaiah was supposed to accomplish his dreams of making it to the NBA, he learned that he had been diagnosed with a mild case of Marfan Syndrome. A routine EKG during his pre draft workout had revealed this condition. Marfan Syndrome is a rare genetic disorder that can affect the connective tissues surrounding the body. It will interfere with the functionality of the eyes, heart, blood vessels, and parts of the skeleton. The fibers that anchor organs and other bodily structures are all affected. For Isaiah, he unfortunately follows under the common build for those with Marfan Syndrome as he has disproportions in the lengths of the limbs in his body. Standing at seven foot tall, he is subject to some of the ramifications that come with the disease. Defective fibrillin genes may cause some of the bones in the body to make an individual taller than normal. This affects the size of the arms, legs, fingers, and toes as well. A mutation in the transforming growth factor beta (TGF-beta) gene will cause a cascade of connective tissue problems throughout the body.
For this topic, I wanted to focus on the heart as we have been delving into the physiology of the heart. And more specifically, I wanted to understand why Marfan Syndrome affected the heart physiologically to the point where someone like Isaiah Austin was not allowed to compete professionally in the NBA. Marfan Syndrome can potentially be life threatening. And for Isaiah to find out he had Marfan Syndrome so much later in life, is a pose of concern. The features were not so obvious until they did an x-ray scan that revealed the enlargement of his heart due to the condition. Doctors were concerned about a potentially fatal aortic dissection because of his aorta that was enlarged. The physical activity from basketball requires demands on the heart that would deem too risky for Isaiah to participate in. They would render him medically ineligible to play.
Marfan Syndrome, from a physiological perspective, can affect the heart in a multitude of ways. It can begin by weakening the connective tissue that surrounds the aorta, as well as its valves. Because of this, aortic aneurysm can occur. Other conditions such as aortic dissection and mitral valve prolapse can happen, too. An enlarged aorta is subject to tearing and a life threatening case of aortic dissection may occur. Blood can potentially seep into the inner layers of the aorta wall through regurgitation. The heart will have to work too hard as the left ventricle can become too large, and it will lead to heart failure. As far as aortic aneurysm is concerned, the aorta can weaken and widen. That leads to a bulge forming from the widening and causes problems at the aortic root where the aorta leaves the heart. Rupturing of the aorta is extremely problematic, as life-threatening hemorrhage is subject to occurring. Blood pressure will drop significantly and one can be dead in just minutes. With heart valves, the flaps on the mitral valve can potentially become “floppy” and prevent closing. Because of this, the blood may leak backwards into the heart leading to aortic regurgitation. As far as some other cardiac effects are concerned, the irregular heartbeats that happen by way of Marfan Syndrome will lead to the shortness of breath and heart palpitations. Because of the effect on such regulatory pathways in the heart, individuals are subject to lightheadedness and chest pain. In less common scenarios, the pulmonary artery can become dilated due to Marfan Syndrome. And this will cause issues as the increased pressure on the lungs, will cause a strain on the right side of the heart and potentially lead to heart failure.
For Isaiah Austin, his story did not end there. The NBA honored him on draft night by making him a ceremonial first-round pick. And two years later, he was able to grace the court again to play professionally. Because his condition was mild, further testing in 2016 cleared him to play with close watch on his heart from doctors. He was not cleared by the NBA, who carried stricter guidelines as far as cardiology was concerned. But his own doctors allowed him to continue playing as he pursued opportunities overseas. He was able to play multiple seasons in Europe and Asia. And he has also been able to play locally here in the United States through Ice Cube’s BIG3 Basketball League.
If you are wondering how he was able to be cleared, I was too. And I took a dive into how exactly he was able to play with Marfan Syndrome all these years since. Because his condition was mild, his aorta was still structurally stable. The root diameter remains the same size. His cardiac output was monitored and it still was efficient. So, measures such as his stroke volume, left ventricular structure, SA node, and oxygen carrying capacity were all rendered to be normal. The sympathetic nervous system is functioning properly. And his mitral valve would be able to handle the workload of a professional basketball setting. There should be less indication of regurgitation. And the fibers surrounding his connective tissue were not extremely weakened by his condition. All of the systems in the heart have been carefully monitored by clinicians. Many CT and MRI scans are done. He constantly wears a heart monitor when playing or doing physical activity. He also goes under blood pressure testing regularly.
American College of Cardiology/American Heart Association. (2022). 2022 Aortic disease guideline: A report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. Journal of the American College of Cardiology, 80(24), e223–e393. https://doi.org/10.1016/j.jacc.2022.08.004
Brooke, B. S., Habashi, J. P., Judge, D. P., Patel, N., Loeys, B., & Dietz, H. C. (2008). Angiotensin II blockade and aortic-root dilation in Marfan’s syndrome. The New England Journal of Medicine, 358(26), 2787–2795. https://doi.org/10.1056/NEJMoa0706585
De Backer, J., Renard, M., Campens, L., & Muino-Mosquera, L. (2021). Cardiovascular management in Marfan syndrome and related conditions. European Heart Journal, 42(39), 3939–3947. https://doi.org/10.1093/eurheartj/ehab302
Dietz, H. C. (2017). Marfan syndrome. In A. L. Beaudet et al. (Eds.), GeneReviews®. University of Washington, Seattle. https://www.ncbi.nlm.nih.gov/books/NBK1335/
Groth, K. A., Hove, H., Kyhl, K., Folkestad, L., Gaustadnes, M., Vejlstrup, N., & Østergaard, J. R. (2015). Clinical review: Marfan syndrome—A clinical update. European Journal of Human Genetics, 23(1), 124–133. https://doi.org/10.1038/ejhg.2014.62
Maron, B. J., Udelson, J. E., Bonow, R. O., Nishimura, R. A., Ackerman, M. J., Estes, N. A.,
& Thompson, P. D. (2015). Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: Task Force 3: Hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and other cardiomyopathies, and genetic cardiovascular diseases. Journal of the American College of Cardiology, 66(21), 2362–2371. https://doi.org/10.1016/j.jacc.2015.09.035
Loeys, B. L., Dietz, H. C., Braverman, A. C., Callewaert, B. L., De Backer, J., Devereux, R. B.,
& MacCarrick, G. (2010). The revised Ghent nosology for the Marfan syndrome. Journal of Medical Genetics, 47(7), 476–485. https://doi.org/10.1136/jmg.2009.072785
Pyeritz, R. E. (2019). The cardiovascular system in the Marfan syndrome. Progress in Pediatric Cardiology, 53, 11–16. https://doi.org/10.1016/j.ppedcard.2019.01.002
Singh, M. N., & Lacro, R. V. (2020). Recent clinical trials in Marfan syndrome. Current Opinion in Cardiology, 35(6), 589–595. https://doi.org/10.1097/HCO.0000000000000783

No comments:
Post a Comment