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Becoming a Beacon for Bicuspid Aortic Valve Disease – Penn Medicine

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Becoming a Beacon for Bicuspid Aortic Valve Disease – Penn Medicine




The largest heart valve program in Philadelphia Region grew even bigger this winter with the opening of Penn’s Center for Bicuspid Aortic Valve Diseases.

The Center enables Penn heart and vascular specialists to provide comprehensive and coordinated evaluations and monitoring for patients with bicuspid aortic valve and associated aortic aneurysm conditions.

“The idea is to provide integrated, long-term care for patients with aortic bicuspid valve disease, which can be up to one to two percent of the population,” says Joseph Bavaria, MD.

The Hidden Threat

Bicuspid aortic valve is a birth defect in which the aortic valve only has two small parts, called leaflets, instead of three. Those leaflets may be thicker and stiffer than normal, which can lead to aortic stenosis, where the valve doesn’t open as easily as it should when the heart squeezes. 

A bicuspid aortic valve can also allow blood to flow backwards into the heart when the heart relaxes, a process known as aortic regurgitation. Both conditions can force the heart work harder than it otherwise would. If a dysfunctional bicuspid aortic valve is left untreated, it can cause severe damage to the heart.

One tricky thing about bicuspid aortic valve disease is that relatively little is known about it. The cause is unclear, and most people don’t learn that they have it until they have heart failure or symptoms like chest pain, shortness of breath and lightheadedness, during middle age.

Because the disease is rare and under-studied, its warning signs, like heart murmurs, are often not treated as seriously as they should be.

“We’ll often hear about young patients who have known that they have a heart murmur for a long time, but they have not been fully worked-up to understand the underlying cause.  In young patients with heart murmur, bicuspid aortic valve disease is often the cause,” Dr. Bavaria says.

Of equal concern for patients with bicuspid aortic valve is aortic aneurysm disease, which affects up to half of people with bicuspid aortic valve. This condition causes an abnormal enlargement of a blood vessel, which can lead to severe complications such as a rupture or dissection.

“Prompt diagnosis and long-term surveillance is critical in these cases,” Dr. Bavaria says. “The Center is well equipped with a multidisciplinary team of heart surgeons, cardiologists, imaging specialists, and geneticists to provide care for patients with bicuspid aortic valve diseases.” 

Connecting the Dots

The genetic nature of bicuspid aortic valve disease is not yet fully understood, but it appears to run in families. That makes coordinating care all the more important.

“Hearing that you have a heart murmur should not be the end of the discussion. It’s really important to find out where it’s coming from,” says Melanie Freas, DNP, CRNP, the center’s clinical program manager. “It’s also extremely important to start asking questions about your family history in case anyone else in your family may have this.”

The Center for Bicuspid Aortic Valve Diseases aims to coordinate long-term, integrated care between a patient’s primary care doctor, cardiologist, family, and the Center’s multidisciplinary team. 

“We can facilitate an integrated approach to the diagnosis and workup not only for the patient, but for their families as well,” Dr. Bavaria says.

Dr. Bavaria envisions the Center evolving to become a much-needed physical and virtual platform for patients and their families to explore bicuspid aortic valve disease together—and perhaps make some of the connections that researchers are beginning to test.

“The Center’s research arm will be performing focused research trials and studies that will try to understand the natural history of the disease before surgery and after,” Dr. Bavaria says.

To learn more about the Center for Bicuspid Aortic Valve Diseases, call 1-877-PENNBAV or email pennbav@uphs.upenn.edu

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