Baltimore Lawyer Sees Cardiogenetic Testing as Gift to Her Children
By the time Ashley Fisher underwent genetic testing in 2012, she already knew she had a congenital heart condition, hypertrophic cardiomyopathy. The disease, which causes thickening of the heart muscle, can lead to congestive heart failure and sudden cardiac death. Fisher was certain that she had inherited the condition from her mother.
“Genetic testing was never about me. It was about my children. What I liked about the idea of genetic testing was how to protect my children, whether to protect them,” says Fisher, a 35-year-old Baltimore lawyer, who has a 6-year-old daughter and an 18-month-old son. “I had my daughter tested, and she tested positive for the gene. But the disease may never come to light in her, which is obviously my hope and prayer.” She plans to have her son tested when he is older. “He had a prenatal echocardiogram, and his heart looked fine,” Fisher says.
“It’s a gift for me to know that my daughter has the gene so that I can make choices for her that my parents couldn’t make for me,” Fisher says. What sort of activities should she be allowed to do? Should she play certain sports? “I would rather keep her safe. It could turn out that she never has a symptom and remains healthy for the rest of her life. It’s not a risk that I can live with,” Fisher says.
In some cases, cardiogenetic testing may help doctors to make a diagnosis. Through genetic testing, University of Maryland doctors are able to detect a number of inherited cardiac abnormalities, such as hypertrophic cardiomyopathy, Ehlers-Danlos syndrome, Long QT syndrome, arrhythmogenic right ventricular dysplasia, Marfan syndrome and thoracic aortic aneurysm and dissection. The University of Maryland Center for Aortic Disease is one of the few centers in the region staffed by geneticists and cardiologists who are equipped to test for genetic conditions of the aorta – the largest artery in the body. When aortic diseases are caught early, patients can be treated and avoid emergency situations that may result in sudden death.
Fisher, a lawyer who handles asbestos litigation, has an uncommon type of hypertrophic cardiomyopathy – one that affects the middle and bottom (apex) of the left ventricle, or lower chamber of the heart. It is called apical hypertrophic cardiomyopathy and is caused by a relatively rare gene mutation. The severity of the condition varies greatly among individuals, even members of the same family. Fisher’s disease is very aggressive. Her mother, who was not diagnosed until her daughter began to experience serious problems, has had less severe symptoms. Her sister doesn’t have the condition. Her mother’s father likely has the disease but has not been tested.
Fisher first learned that she had a heart problem when she was 19. A nurse discovered a heart murmur during a routine check-up, and an echocardiogram later showed her heart’s left ventricle was enlarged. Fisher experienced shortness of breath when she exercised, but didn’t develop significant symptoms until 2002 when episodes of dizziness and a racing heart prompted doctors to implant a cardioverter defibrillator in her chest to prevent dangerous, possibly deadly, arrhythmias.
By 2009, her symptoms had gotten much worse, and she experienced bouts of ventricular tachycardia – racing and irregular heartbeats. Each time, her defibrillator shocked her heart back into a normal rhythm. “It’s very, very painful. But if I didn’t have the device, I probably would have died. It was scary,” Fisher recalls. She was particularly frustrated that she never knew when these attacks would occur and kept looking for ways to prevent them.
When Fisher became pregnant with her second child in 2012, she was introduced to cardiologist Dr. Stacy Fisher, who oversees the cardiogenetics program at the University of Maryland and specializes in treating adults with congenital heart problems, especially women who are pregnant.
“Dr. Fisher knows a lot about this condition. She’s been a godsend. She is very thorough and did lots of tests and helped me get through my pregnancy,” Fisher says. Dr. Fisher recommended genetic tests that showed that both Fisher and her daughter have the same rare gene variant.
Fisher’s pregnancy was not without problems. At 25 weeks, her water broke, and she was placed on strict bed rest for five weeks. Her son was born over two months prematurely and weighed 2 pounds, 13 ounces. He spent nearly a month in the neonatal intensive care unit at University of Maryland Children’s Hospital and another month and a half at Mt. Washington Pediatric Hospital before going home.
After the birth of her son, tests confirmed that Fisher’s heart condition was getting worse. She had a procedure to remove extra muscle from her left ventricle in an effort to improve blood flow and reduce her symptoms. Doctors hope this will prevent the need for a heart transplant in the future. Fisher looks forward to going back to work and keeping up with her husband and two children.
Dr. Fisher will continue to monitor her condition as well as provide genetic testing to “first-degree” relatives who might also carry the gene. “We not only care for patients with inherited cardiac conditions but also offer testing and support to family members who might be similarly affected,” Dr. Fisher says. “Just because someone tests positive for a particular gene, doesn’t mean that they will ever develop the disease. We can begin regular screening to actively manage conditions that arise.”