After Anne Goodes learned she carries a gene for cardiomyopathy, she urged family members to get tested.
Anne Goodes knew her heart beat faster than normal, but it wasn’t until her local cardiologist detected a heart murmur that she discovered she was at risk for sudden cardiac death. At Duke, she learned the cause was hypertrophic cardiomyopathy, a common heart condition that can run in the family. Goodes soon discovered her children may need to take precautions as well.
Learning to Live with Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy affects the cells that make up the heart muscle, said Andrew Wang, MD, a Duke cardiologist who specializes in condition. It causes areas of the heart muscle wall to thicken, which makes the muscle work harder and can obstruct the flow of blood exiting the heart. Hypertrophic cardiomyopathy often goes undiagnosed because many people have no symptoms. It's notorious for causing sudden death in young athletes but can affect people of all ages.
When Goodes, a 55-year-old pediatric physical therapist, first saw Dr. Wang, he recommended she wear a portable monitor to record her heart beats. It documented several episodes of arrhythmias, or irregular heartbeats, caused by her thickened heart during a 48-hour period. Because that’s a possible warning sign for sudden cardiac death, he advised that an implantable defibrillator (ICD) be placed under her skin. The battery-powered device connects thin wires to her heart muscle to pace or shock the heart back into rhythm if it beats too fast or too slow.
“The ICD treats the risk of sudden death,” Dr. Wang explained.
Although Goodes knew the procedure was similar to getting a pacemaker, “I was very nervous about the ICD placement,” she said. “The nurses and anesthetists understood how I felt, and it meant a lot that everyone was caring and understanding. They had a lot of positive energy and reassured me that they’d take good care of me.”
In the months following the 2016 procedure, Goodes complained of shortness of breath when walking, another symptom of her thicker heart muscle. Dr. Wang helped her find the right combination of medications to improve her symptoms and quality of life. Now, Dr. Wang coordinates Goodes’ care with her local cardiologist near her home in Reidsville, NC.
Cardiomyopathy Can Run in Families
Cardiomyopathy is often inherited from one generation to another. Once she was diagnosed, Goodes made the connection that her mother died of cardiac arrest at 67. Her grandmother died at a young age, too. Genetic testing can identify other members of the family at risk. Genetic counseling can ensure they understand how to lower their risk.
A genetic blood test showed that Goodes carries one of several genes known to cause hypertrophic cardiomyopathy. Dr. Wang suggested her family be tested, too. "Immediate family members should be screened with an EKG or echocardiogram or possibly with a genetic test, if available," he said.
Goodes’ college-age daughter tested positive for the same gene. While she doesn’t have any symptoms, Goodes said, “they will follow her at Duke and check her every few years” to monitor her heart for thickening.
Now Goodes is encouraging her siblings and their children to be tested as well. Knowledge is power, she said. “At Duke, they’re willing to listen and explain things. I’ve learned so much about my body and how to live my life the best way possible.”
A New Normal
While it took Goodes a while to adjust to the device under her skin, she’s back to enjoying her normal activities. After two knee replacements, she enjoys taking long walks, swimming in the summertime, and working in her rose and perennial gardens.
“I’m trying to be more aware of what I eat, how much I exercise, and my symptoms,” she said.
Dr. Wang said Goodes' outlook is very positive. “She works full-time; she’s doing all her typical activities. With many different treatment options, the majority of people who have this condition may live a normal life."