Brugada Syndrome: A Dangerous Family Trait

This is the second story in a two-part series about genetic heart rhythm disorders. Yesterday, we told you about how genetic testing gave a family answers after a tragedy.

Adrian Chance, 40, has always been the picture of health. He’s a former high school football star and works as a personal trainer in Charlottesville for ACAC Fitness & Wellness Centers. He also stays fit keeping up with three young sons.

Adrian Chance, who has Brugada Syndrome, with his family
Adrian Chance with his family

But on Sept. 16, 2012, in the middle of the night, his heart suddenly stopped pumping. Three weeks later, it happened again. Fortunately, his wife woke up both times and performed life-saving CPR until paramedics arrived to rush Adrian to UVA Medical Center.

Blood tests eventually revealed that Chance inherited a rare heart disorder that can trigger nocturnal sudden cardiac arrest because of a dangerous heart rhythm. He is one of very few people to survive two cardiac arrests.

Diagnosing Brugada Syndrome

His condition is known as Brugada syndrome, which can be passed down from parent to child. Doctors originally thought Chance had long QT syndrome — the most common type of genetic heart defect seen in the U.S. There are several types of LQTS, and one was similar to Chances’ condition, in which a low heart rate during sleep or rest can be the trigger.

With LQTS, there is a lengthening of the time it takes for the heart to fire off a contraction and recover electrically. Chance’s EKGs (electrocardiograms) that record a heart’s electrical activity were normal.

“People with Brugada and LQTS can have a normal EKG, making it really difficult to determine,” says Rohit Malhotra, MD, a UVA cardiac electrophysiologist who specializes in heart rhythm disorders.

Genetic Testing for Heart Disease

Knowing he inherited a life-threatening trait, Chance’s concern immediately turned to the health and safety of his family. At the Cardiovascular Genetics Clinic, Chance and his wife met with Matthew Thomas, a genetic counselor who specializes in inherited heart disease. Thomas explained that each of their three boys had a 50 percent risk of carrying the same genetic disorder.

“Fortunately, all of his boys tested negative,” Thomas says. “It was truly a best-case scenario. This is one of the few times in medicine where you can definitively say someone is not at risk for something.”

Chance doesn’t know any other family members with heart issues. But recent genetic tests have revealed that his father, aunt, brother, sister and two of his sister’s four children share the same genetic disorder. As a precaution, his brother and sister, like Chance, have a defibrillator device implanted next to their hearts. His sister’s two children are being closely followed by a cardiologist. “It makes me feel good that they are getting tested and being proactive about their health,” Chance says.

You and your children should be checked for an inherited cardiac defect if anyone in your family has had unexplained sudden cardiac death (especially at a younger age) or unexplained fainting episodes or seizures.

If you’re concerned about your family’s risk for a heart problem, talk to your doctor about a referral to the UVA Cardiovascular Genetics Clinic.

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