Jessica (Maciey) Minot, a nurse at the Hospital of the University of Pennsylvania, never knew her older sister, who died of what was diagnosed as a “congenital heart defect” at eight months old. And she was only seven years old when she lost her mother to heart disease as well. Her mom was 29. “I don’t have a lot of memories of her but I do remember her being really sick,” she said. Three years ago, heart disease suddenly claimed her older brother as well, when he was 24. “He had no symptoms that we knew of.”
The terrible fates in her family tree can all be traced to dilated cardiomyopathy, a weakening or enlargement of the heart muscle. Its life-threatening presence can remain undetected for years and then suddenly strike. And it can be passed from parent to child as an inherited genetic abnormality.
In a sense, Minot was lucky. When she was in elementary school, her primary care physician, knowing her family history, referred both her brother and her to CHOP. At the time, her brother‘s heart was fine but Minot had mitral valve regurgitation; the valve wasn't close tightly, allowing blood to flow backward into her heart. She received an echocardiogram each year to keep watch on the defect. Right before college, the annual echo showed that her heart had doubled in size. “I had no symptoms before I was diagnosed,” she said. “I never would have known without my yearly check-up.”
This kind of continuous close monitoring is particularly critical in children and teenagers because cardiomyopathy in those age groups can be extremely difficult to diagnose. Many common childhood illnesses have the same symptoms as heart failure or heart disease. But, if doctors know these patients are at risk, they’ll identify it much quicker.
Minot’s cardiologist referred her to another CHOP specialist but treatment didn’t seem to improve her heart function -– in fact it was decreasing. In 2007, the 20-year old was referred to Mariell Jessup, MD, of Penn Cardiovascular Medicine and president of the American Heart Association. As Minot described her symptoms and family history during the initial visit, Jessup suddenly realized she had treated her mother, 20 years earlier. “I was watching the cycle of familial cardiomyopathy repeat itself before my eyes.”
Early Detection is Key
The sooner cardiomyopathy is detected, the more effectively it can be treated -– or even prevented, such as in children or young adults who have inherited the family genes. Although inheriting a genetic disposition for cardiomyopathy doesn’t always mean a child will develop the disease, knowing that the risk exists can clearly make a big difference.
“When one person in a family has an unexpected death or cardiac condition, it’s wise to evaluate the whole family,” Jessup said. “We tell patients to make sure they talk to brothers and sisters, and recommend an evaluation for their children.”
The Familial Cardiomyopathy program, a partnership between Penn Medicine and CHOP, specifically targets these patients. If an adult patient is diagnosed with cardiomyopathy, “we’ll send their children to CHOP to be evaluated and vice versa,” Jessup said, adding that “of people with poor heart function and no obvious cause [ie, coronary artery disease, longstanding hypertension], about 40 percent could have inherited their condition.”
In Penn’s program, children and young adults can be screened for the disease either clinically, with an EKG and echocardiogram, or genetically, in which DNA from a blood sample is analyzed for specific genetic markers. Genetic counselors play a vital role in the program.
Today, Minot is doing well. Her medication regimen has more than doubled her ejection fraction, a measure of how well heart pushes blood through her veins. “New medical therapies have been shown not only to make patients feel better and live longer, but also improve heart function,” Jessup said.
Minot still gets an annual echocardiogram and sees Jessup every six months. While not allowed to drink alcohol, she has no other restrictions on her daily life.
In addition to following her medication regimen, “I exercise and try to eat a healthy, low-sodium diet,” Minot said, tools that will help her stay healthy. She and her husband, Matt, recently adopted a dog, Lexi, from the SPCA. “We love taking her for walks and hikes at Valley Forge National Park and other parks.”
While Minot has wanted to be a nurse since she was little, following in the footsteps of her grandmother, her medical history has definitely had an impact on her specialty. She will soon be working in the hospital's cardiac intensive care unit, helping patients with heart disease.
Photo caption: Jessica Minot (c) with husband, Matt, and Mariell Jessup at a conference of the American Heart Association.