How an NBA player's genetic heart disease led to advocacy for hypertrophic cardiomyopathy

 

How an NBA player's genetic heart disease led to advocacy for hypertrophic cardiomyopathy

A healthy athlete all his life, Jared Butler entered his college basketball physical exam as the last step before he could step on the court. But an unexpected diagnosis of a potentially lethal heart condition put him on the sidelines while he anxiously wondered if his basketball career was over.

"After a month of testing, we found out that I had hypertrophic cardiomyopathy," Butler told ABC News. "I had never heard the term before. I was worried what this would mean for my playing career — and ultimately my life."

That was three years ago. Today, Butler is coming off a starring role in an NCAA championship run at Baylor University and playing as a rookie in the The National Basketball Association for the Utah Jazz. He has been able to continue his career thanks to routine cardiac evaluation and support by his family, doctors and team.

Hypertrophic cardiomyopathy is this most common genetically inherited heart disease, estimated to affect between 1 in 200 and 1 in 500 people worldwide, according to a 2015 study published in the Journal of the American College of Cardiology. The condition causes the heart muscle to become too thick, which could lead to life-altering conditions such as arrhythmias, heart failure, stroke or death.

Dr. Steve Ommen, cardiologist and medical director of the Mayo Hypertrophic Cardiomyopathy Clinic in Rochester, Minnesota, said the disease is not gender-selective and has no ethnic or geographic hotspots.

"The disease can manifest at any time and at any age among family members carrying the mutation," said Dr. Seema Mital, pediatric cardiologist and head of cardiovascular research at The Hospital for Sick Children in Toronto. "Some may even go without any evidence of the disease throughout their lifetime."

Once someone, like Jimmy Butler, is found to have the disease, immediate family members are tested for the genetic mutation. In Butler's case, his mother, Juanea, also tested positive for genetic markers of the disease. She will also be monitored regularly by a cardiologist.

Ackerman added the second aspect of the campaign is knowing your family history. Having that knowledge about the sudden death of a family member could be life saving information

"Young patients come to the doctor complaining of shortness of breath, or chest pressure, and they are mistakenly diagnosed with exercise-induced asthma," said Ommen. "Campaigns like 'Could it be HCM?' are trying to raise awareness that if a young person does come in with symptoms, think about hypertrophic cardiomyopathy as one of the potential causes."

There is no cure, but Mital said that there are medications and surgical techniques to help alleviate symptoms and a lot of research invested in finding treatments to slow progression of the disease is in the future.

"Finding out you have the condition is just the beginning. It has been a long journey, and it has changed my life," said Butler. "But I find myself lucky that I do not have symptoms and I can continue playing basketball."

Lily Nedda Dastmalchi, D.O., M.A., is a physician and cardiology fellow at Temple University Hospital and a contributor to the ABC News Medical Unit. 

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