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Familial Cardiomyopathy

Image of familial cardiomyopathy patient Jess Maciey

For the first time, she didn't want to follow in her mother's footsteps.

When Jess turned 18 she learned that her heart was failing. She was diagnosed with the same form of heart disease that ended her mother's life a decade earlier at the age of 29.

"We know my heart disease is genetic," says Jess, now a nurse at Penn Medicine. "My family's story started with the birth of my older sister."

Jess' sister, Alison, was a seemingly healthy baby, until at eight months old, she came down with what appeared to be a rapidly developing cold. She was rushed to the hospital where she was diagnosed with a congenital heart defect. But the discovery came too late for Jess's sister; she soon passed away.

"I never got to meet my older sister," says Jess, "And unfortunately for my family, my sister's heart disease was just the beginning."

A devastating disease

After the death of her first child, Jess' parents, Elaine and Michael, had two more children: Jess and her older brother, Andrew.

But soon after Jess' birth, Elaine was diagnosed with postpartum cardiomyopathy – her heart was failing due to the stress of pregnancy. Three weeks later, she needed a heart transplant. The transplant was successful, but only temporarily. "I was five years old when my mom needed a second heart transplant," Jess recalls, "The second transplant only lasted another few years. My mom died when I was 7 years old."

Taking to heart a difficult diagnosis

Familial cardiomyopathy patient Jess Maciey running with her dogDoctors knew there was a chance Jess and her older brother Andrew had inherited the same condition, so they were both referred to the Cardiac Center at The Children's Hospital of Philadelphia. Unlike Andrew, whose heart function was normal, Jess had mitral valve regurgitation (MVR). MVR is a heart condition where the mitral valve does not close tightly, allowing blood to flow in the opposite direction, back into the heart. When the mitral valve doesn't work properly, blood can't move through your heart or to the rest of the body efficiently, causing fatigue and shortness of breath. Despite this condition, Jess enjoyed an active childhood and adolescence, returning to CHOP for annual echocardiograms (also known as an Echo, or ultrasound of the heart) to monitor her heart.

At 18 years old, Jess' yearly Echo showed that her heart had doubled in size since the previous test. She was suffering from the same disease that killed her mom and older sister, dilated cardiomyopathy, a condition in which the heart becomes weakened, enlarged and unable to pump blood efficiently.

"I was told that I would never be able to drink alcohol and that I needed to closely monitor how much sodium I was consuming. Doctors said that daily exercise was a must to keep my heart from getting worse," says Jess. On top of the dietary restrictions and exercise regimens, Jess was monitored closely for deteriorating cardiac function.

Thinking that the worst of the family's medical problems may be behind them, Jess and her brother moved on to college. Andrew passed away very suddenly and unexpectedly at the age of 24. It was after his death that Jess and her family learned that he too had heart failure.

Her family history. Her own future.

Following her brother's death, Jess resolved to do everything in her power to not suffer the same fate as her two siblings and her mom. She started taking her doctor's orders very seriously.

"When I was 20, I was transferred to the care of the Center for Inherited Cardiac Disease at the Hospital of University of Pennsylvania," says Jess. 

Jess' care team reinforced the gravity of the situation that Jess faced, but also provided hope for a healthy future. This hope is born from the advances in cardiovascular medicine which every day are being developing at centers like Penn Medicine. Jess's doctors provided clear and understandable education stressing the importance of following the strict guidelines set out, guidelines to help her outlive her brother and mother's fate. "The news was devastating. I just wanted to be a normal college kid," Jess recalls, "But they gave me the tools I needed to stay healthy."

Putting her heart in Penn's hands

Today, Jess has not only survived, she has thrived. She is a nurse, another family tradition passed down through the generations, and works in the cardiac intensive care unit at Penn Medicine. "Jessica is the most courageous person I know," says her father, Michael.Jess and Lacey

"Since coming to Penn, my ejection fraction, an important measurement in determining how well your heart is pumping out blood, has doubled," boasts Jess proudly. "I credit my health not only to my adherence to a healthy lifestyle, but also to the advances in science and medicine that have occurred since my mom passed away almost 20 years ago."

"I recommend Penn to anyone with heart disease. Penn has world class research, new innovations, and the newest therapies for all kinds of heart problems."

She and her husband recently adopted their daughter, and Jess credits her family with helping her maintain her health. "My husband and our daughter, as well as our family and friends inspire me to stay heart healthy. Time with our loved ones is a precious gift, and I will continue to do whatever it takes to spend every possible moment I can with them."

Need an appointment? Request one online 24 hours/day, 7 days/week or call 800-789-7366 (PENN) to speak to a referral counselor.

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