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Understanding Marfan Syndrome: Jonathan Larson’s Undiagnosed Tragedy

What to know about the disease that led to the death of the iconic playwright.

Late last year, Netflix released the film tick, tick…BOOM!, based on the autobiographical musical written by Jonathan Larson, the playwright and composer best known for his musical Rent. Unfortunately, Larson died suddenly of an aortic dissection, or tear in the inner layer of the aorta, at age 35, the night before Rent’s off-Broadway premiere and subsequent rise to critical acclaim.  

It was believed that Larson’s aortic dissection was caused by an undiagnosed case of Marfan syndrome, a disease that weakens the body’s connective tissue.  

What is Marfan syndrome?  

Marfan syndrome is a congenital condition, meaning that those who have it are born with it. The condition is caused by a mutation in the FBN1 gene. This gene produces the protein fibrillin-1, a scaffold upon which the body is built. “When there is an issue with the scaffolding, the tissues become very weak,” says cardiothoracic surgeon and director of the Jefferson Health Aortic Center, Dr. Konstadinos Plestis. “This weak tissue is what leads to subsequent medical issues, usually in the eyes, lungs, bones and heart, for people with Marfan syndrome.”  

People with Marfan syndrome are usually very tall and have very long arms, legs and fingers. “A diagnosis is typically picked up from these physical characteristics,” says nurse practitioner Jacqueline McGee. “There is also a genetic test that we can conduct to confirm the diagnosis.” 

What are the risks of having Marfan syndrome? 

Those who have Marfan syndrome need very close monitoring and evaluation by a medical team because they can suffer from scoliosis, lens dislocation, rupture of lung blebs (small sacs of air) and aortic aneurysms. “Because of the high chance that aortic rupture or dissection may occur, people with this condition are at risk for early death,” says Dr. Plestis.  

Because it is a genetic condition, there is also a 50% chance that those who have Marfan syndrome will pass it to their children.  

How is Marfan syndrome treated?  

Unfortunately, there is no cure for Marfan syndrome, but symptoms can be managed by a team of specialists. “At the Jefferson Health Aortic Center, we have a team of 15 different specialists who can monitor and address the eye, spine, aortic and lung health of our patients,” says McGee. “Patients usually undergo annual CT scans and may benefit from treatments such as blood pressure medication, depending on their symptoms.”  

To address a potential aortic aneurysm, heart surgery for Marfan syndrome patients is usually conducted preemptively. “We operate on those with this condition earlier than we might for the general population, because they’re at such high risk for aortic rupture or dissection,” says McGee.  

The team at the Jefferson Aortic Center specializes in caring for people with Marfan syndrome and other genetic aortic diseases. Dr. Plestis is one of the few surgeons in the world who uses minimally invasive surgery techniques with aortic disease patients to reduce post-operative pain and help them return to normal life faster—usually within just one month after surgery. In addition, the team can help guide patients through genetic counseling so they understand the risks of passing their gene mutations on to their children.  

Why is Jonathan Larson’s story important?  

Overall, Marfan syndrome is very rare among the general population, but an early diagnosis can mean a longer life. Jonathan Larson was never diagnosed, but most of the time Marfan syndrome can be identified in young children fairly easily by a medical professional. “The full spectrum of the disease may not be clear from the very beginning. If people aren’t regularly visiting their doctor and bringing health issues to their attention, the diagnosis may be missed,” says Dr. Plestis.  

It’s important to keep up with preventive care and bring any concerning symptoms to your primary care provider as soon as you can.  

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