Episode 21: Marfan Syndrome | Big Problems
Jul 18, 2022•41 min•Season 3Ep. 21
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Summary
This episode unravels Marfan Syndrome, a genetic connective tissue disorder, beginning with a historical speculation about Pharaoh Akhenaten and moving through its formal discovery and impact on athletes. Professor Graeme Suthers explains the complexities of diagnosing Marfan, its autosomal dominant inheritance via the fibrillin 1 gene, and the challenges of differentiating it from other conditions. The discussion covers the critical role of genetic testing, the importance of early detection for managing life-threatening aortic complications, and promising new molecular therapies.Episode description
Marfan syndrome is a disease of connective tissue. Patients who have this condition often have a tall stature, long slender arms, legs and fingers but it is the connective tissue in and around organs that is the greatest risk.
This is a genetic disease that was first recognised at the end of the 19th century and the gene responsible identified in the last few decades. Unfortunately, with the propensity for tall people, it may not be surprising that this condition has been unrecognised in some athletes with occasional tragic outcomes.
Our special guest on this episode is Professor Graeme Suthers from Sonic Genetics Australia.
This is the story of Marfan syndrome.
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