Rooting out Heart Disease
When broken hearts run in the family
Lynetta and Gary Anderson adopted sisters Jesi and Krysi with only one stipulation from their birth family – the girls remain in contact with their natural grandmother. It’s a decision the Andersons say saved their oldest daughter’s life.
The girls’ grandmother, Connie, knew she needed to tell the Andersons about the hereditary heart ailment called hypertrophic cardiomyopathy (HCM) that took the life of her 15-year-old son, placed her daughter on the heart transplant list, and as she later discovered, was the cause of a host of unexplained deaths on her husband’s side of the family.
Armed with the information that their daughters’ medical history was concerning, the Andersons, who live in Columbia, Tenn., brought them to the Monroe Carell Jr. Children’s Hospital at Vanderbilt shortly after the adoption in 1997 when they were 6 and 3 years old. At that time everything checked out fine.
Thankfully, Connie was one step ahead of them all.
"Before the girls were adopted, I started writing letters to our kinfolk,” Connie said. “Everywhere I could find a relative who could tell me some kind of history of this heart problem I wanted to hear from them. I did a lot of research.
“There had just been so much death, and I had lost my son. I just knew this was something I needed to do to help these girls and to help the family who was going to be raising them. I think I made it my mission, and I am glad for it.”
Both girls were followed by Ann Kavanaugh-McHugh, M.D., assistant professor of Pediatrics. For years their cardiac evaluations were normal.
But in 2008 Jesi’s routine EKG and echo of her heart showed some abnormalities. Because of the extensive family history, the girls were immediately referred to the Center for Inherited Heart Disease at Vanderbilt University Medical Center.
The clinic, opened in 2006, is a joint effort of Vanderbilt Heart and Vascular Institute and the Division of Pediatric Cardiology at Children’s Hospital to identify families with inherited cardiovascular disease as well as provide genetic screening, counseling and preventive care to family members at risk.
Because a variety of heart and vascular diseases are inherited, they can affect multiple members of a single family, who might not be aware that they carry a gene mutation that puts them at increased risk for heart failure or sudden cardiac death. According to the center, hypertrophic cardiomyopathy affects up to one in 500 people, but in a family with the mutation, the risk increases to one in two.
HCM is the No. 1 cause of sudden cardiac death in young athletes. It causes the heart muscle to thicken, which can obstruct blood flow to the heart with symptoms of dizziness, fainting and shortness of breath. The biggest concern – without proper diagnosis and treatment, those affected by the disease will die suddenly, without warning.
Jesi underwent a cardiac MRI, which showed a significant area of thickening that was not seen in earlier tests. A blood test followed. It showed she carried the gene mutation that had afflicted many in her birth family. The teen received an implantable cardiac device (ICD) or defibrillator that would shock her heart if her rhythm were to become erratic, preventing sudden death.
“When tests showed that the muscle was starting to be a little more thickened, the news was overwhelming to all of us,” Lynetta Anderson said. “Before any of this, I don’t think we understood how serious the disease was.
“It was good to see that Vanderbilt was focused on taking care of her. It is amazing that they are able to find this kind of thing out.”
Charles Hong, M.D., Ph.D., co-director of the Center for Inherited Heart Disease, said the name of the game is preventive medicine.
“Our goal is to catch people before they develop symptoms, before we hear murmurs,” said Hong, assistant professor of Cardiovascular Medicine at Vanderbilt. “Family history is vital for diagnosis and prevention.
Unfortunately, many physicians do not routinely think about family history. The grandmother, in this case, really saved the day.
“The fact that we had the family history was very relevant to this case. Jesi had an abnormal EKG and having a mother with HCM, an uncle who died from HCM, a grandfather, aunt and cousins with the disease, it was pertinent.
“If we had not had this information, then Jesi’s EKG may not have even been performed.”
Vernat Exil, M.D, assistant professor of Pediatric Cardiology and co-director of the clinic, said Jesi’s prognosis is good, and she should have a relatively normal life.
“She has very strict instructions for activity, but the ICD allows us to monitor her. Quite frankly, it is there to prevent her from dying. And that is the purpose of the clinic – to help people, to save lives. Because we have a genetic counselor, we are able to provide much-needed guidance to both the affected and non-affected family members.
“We have come a long, long way in determining the gene defects that cause HCM, but we still have a ways to go. We still don’t know all of the genes that are involved. We still don’t understand how individuals with similar gene defects can have different heart findings (some normal, some abnormal).
“We are, however, in a better position compared with five to 10 years ago as we are able to gather cohorts of families, which may help further our understanding of this major cause of early unexpected death.”
Hong added: “Genetic testing is fundamentally different from routine blood tests, so we really need to evaluate the entire family to do this right. We are often finding genetic changes that have never been described before, so having cohorts of families enrolled in our clinic helps to determine whether a particular genetic change is the cause of the disease or an innocent bystander.
“In Jesi’s case, we actually found a pair of rare mutations in the same gene that had been described only once previously, but we found the identical pair in her birth mother, so we knew we had found the culprit,” Hong said.
Jesi’s grandmother continues to urge other family members to be tested so that they can stop the disease from wreaking havoc on their family.
“When all of this started, no one had a name for the disease,” said Connie. “If I had any clue, if I had known that my children needed to go to a cardiologist, their lifestyles would have changed.
I would have known what to look out for. But that is where I made sure my granddaughters were cared for.”
Although Jesi and Krysi had a clear family history of this potentially life-threatening condition, many families are blindsided by the information – like the Osbornes of Nashville.
The instant the doctor walked into the exam room, Teresa Osborne knew that the news was not going to be good.
What began as a routine sports physical for her then-14-year-old daughter, Katie, was taking a turn for the worse. During an annual physical, in 2006, Katie’s pediatrician detected a heart murmur. The family was referred to Exil at Vanderbilt for further testing.
“Parts of that day are such a blur,” recalled Teresa Osborne. “But I clearly remember that Dr. Exil was heartbroken to have to pass that kind of news along to us. He spent hours talking and discussing things with us.
“He was so kind and compassionate. A big part of [Katie’s] life was being taken away from her. She had tears in her eyes and was just sitting there.” Still in shock, the family quickly called Katie’s sisters. They, too, would be tested for the gene. Osborne said it was not as surprising when doctors discovered that Katie’s oldest sister, Clare, also carried the mutation. Thankfully, Sarah, the middle sister was mutation free.
“When I was first diagnosed with HCM at the beginning of the eighth grade, I was devastated because my life had always revolved around sports,” said Katie, now 17. “I was unsure of what I would do without being able to participate in the [sports] I had previously.”
For the first year after her diagnosis, Katie was closely monitored and placed on a beta blocker. It wasn’t until her freshman year of high school in 2007 that symptoms of HCM began to surface.
“Although she was restricted from participating in sports, I noticed that with some activity she seemed to be having some difficulty,” said Osborne. “I could see that something just wasn’t right. One day she was coming up the stairs and when she reached the top, she was dizzy. She just didn’t look right. I called Dr. Exil.”
Katie was admitted to Children’s Hospital that night. It was determined that she would need a septal myectomy – an open heart surgery to remove the thickened muscle that was blocking blood flow. Soon after her recovery, she also received an ICD.
Now two years later, the junior at Ensworth High School has found interests in other activities including bowling and photography.
“I am used to the precautions I have to take, and I know I have to be careful not to do anything that I am not supposed to,” said Katie. “However, I still try to live as normal as any other teenager. I try not to let it control my life.
“Thanks to my HCM, I have found out I really enjoy bowling, and I love photography and those are things that you can do for the rest of your life. So, although it stopped me from doing things I loved, it opened doors to whole new opportunities that I may not have ever experienced.”
Clare, who was diagnosed with a milder form of the disease while in college, also had a period of adjustment.
“At first I gave up pretty much all working out,” admitted Clare, 23. “But after time passed, I realized that I missed what I used to do and started walking and doing other physical activities that wouldn’t put me at increased risk for sudden cardiac arrest.
“For me, it took a while to get used to knowing that I had this illness; however, once I did, I don’t let it affect me anymore. But I will say it was hard at first.”
A 2009 Vanderbilt graduate, Clare works as a research assistant in the Vanderbilt Institute of Imaging Science with hopes of attending medical school. She is followed by her cardiologist and takes a calcium channel blocker to minimize symptoms.
Since her daughters’ diagnoses, Osborne discovered that she, too, carries the gene, as does her mother and sister. None of them have shown symptoms of the disease.
“We have not been able to trace it any further back than that,” said Osborne. “But now that we know, we are going to have to be vigilant about it when my girls have children. It is better to have the knowledge and be prepared than be caught by surprise. It helps you prepare your children for what to expect rather than have to step back (from activities they already love).
“My hope for my girls has not changed,” said Osborne. “I still want them to find the things that make them happy and be successful at it. I don’t want them hindered by it, but I am so glad it was discovered before something tragic happened.”