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Cardiac Genetics Clinic at University of Miami Health System

Dangerous heart arrhythmias can run in families

Dr. Robert Myerburg, a cardiac electrophysiologist at University of Miami Health System, discusses the role of genetic testing in identifying dangerous heart arrhythmias in patients and their families.

Dr. Robert Myerburg is a cardiac electrophysiologist at University of Miami Health System. To find out more about UHealth’s cardiac genetics clinic, call 305-243-5554 or visit the UHealth news blog


Christelle Caron enjoys being active. But in her early 40s her lifestyle was threatened after a series of fainting episodes that landed her in the emergency room with a dangerous heart rhythm.

Before being discharged from the hospital, the cardiology team told Christelle, “We have a suspicion it is ARVD. To find out, we should do genetic testing.”

Through genetic testing offered here at the UHealth cardiology clinic, Christelle learned she had a potentially fatal condition known as arrhythmogenic right ventricular dysplasia, or ARVD. In patients with ARVD, fat and scar tissue in the right ventricle of the heart prevents the heart muscle from working properly. The condition is typically diagnosed at a young age and in athletes, ARVD can lead to sudden cardiac death.

“ARVD has what's called variable expression genetically, so not everybody that has the gene is going to get the life-threatening arrhythmia,” says Dr. Myerburg, a UHealth cardiac electrophysiologist who oversees Christelle’s care.

There are a number of benefits to finding out if a heart arrhythmia is genetic in origin, says Dr. Myerburg. “One reason is to determine who within the family constellation needs continuing followup and who within the family has nothing to worry about,” he says.

Another benefit of genetic testing is that it helps the cardiology team determine the best treatment plan. “If you have the gene and you have the clinical story that matches up with the gene, then you can make more intelligent conclusions and recommendations,” says Dr. Myerburg.

Genes are passed within families, and if an individual carries a gene, most of the time the odds of passing it on to a child are 50 percent, says Dr. Myerburg.

“Children who inherit the gene need to be followed and their children need to be tested and followed,” he says. “Those who do not inherit the gene are off the hook and their future generations are off the hook.”

Genetic testing revealed Christelle’s mother and sister also carry the gene mutation that causes ARVD, but each of the women have had different medical experiences following the results.

“I was surprised I had this genetic condition because nobody in my family had any antecedence of any heart issues,” says Christelle. “My mom has the gene and she has also been diagnosed with ARVD, but her treatment is very different from mine. My sister has the gene but has not developed the condition.”

According to Dr. Myerburg, most people with ARVD should avoid intense exercise. But he and Christelle -- who has a surgically implanted defibrillator monitoring her heart rhythms -- worked together to create an individualized plan that includes friendly tennis matches.

“It's a very personal choice,” says Christelle. “I decided that whatever happened to me, life doesn't deter who I become and who I am. Everything I do has been discussed and aligned with my medical team.”

Dr. Myerburg says he values shared decision making, where doctors and patients discuss their options and work together to determine the best way forward.

“I do not believe that everybody should have genetic testing,” says Dr. Myerburg. “What we're doing with genetic testing is to determine whether an individual who presents with an uncertain structural disease or a heart rhythm disturbance has a genetic basis for it. If there's a suspicion for an arrhythmia, the person carries the gene, and a family member has had a serious arrhythmia, then we would be more aggressive with that patient.”


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