Brugada Syndrome: Which Family Members Should Get Tested?
Advocate Lisa Benson shares part of an interview with a genetic electrophysiologist, Steven Lubitz, MD, MPH, about Brugada Syndrome, a heritable heart rhythm disorder that can lead to sudden cardiac arrest.
Dr. Lubitz’s bio on massgeneral.org says, “Dr. Lubitz graduated from the University of Michigan Medical School. He trained in internal medicine and cardiovascular disease at Mount Sinai Hospital in New York, where he also served as a Chief Medical Resident. Dr. Lubitz earned a Master of Public Health degree from the Harvard University School of Public Health. He completed his clinical electrophysiology training at the Massachusetts General Hospital.”2
He is interested in the genetics of electrophysiology because he gets to see how genetics has unlocked keys to understanding the biological mechanisms of disease. He enjoys the blending of clinical work and research. In addition to Brugada Syndrome, he focuses on arrhythmia syndromes such as atrial fibrillation, slow heart rates, supraventricular tachycardias, ventricular arrhythmias, and more.
Below is a portion of the conversation, focused on information that can guide family members in getting tested for Brugada Syndrome.
Risk to children
In terms of statistical risk of children, if one parent has the syndrome, what is the likelihood a child would have it?
This is a hard question to answer. Partly that's because we don't have a great study that has followed people longitudinally. So we make all these inferences from bits and pieces of data that exist in a somewhat biased manner.
But what I can say is that one of the things we know is that the risk of developing a Brugada pattern changes over the course of your life. It's very rare to see it in young people. It usually starts to manifest sometime in the teen years at the earliest. During young to middle-aged adulthood is when we more commonly see it. But it can of course present at a later age, too.
There have been estimates that 10% - 20% of immediate family members will exhibit a Brugada pattern at some point during their lifetime, but these are really biased estimates so I don't usually like to quote them with patients. I instead talk to them about just being vigilant keeping an eye out.
The other thing that's probably worth mentioning is that the gene associated with Brugada Syndrome, SCN5A, turns out to be important for a variety of other heart conditions because it's involved in so many processes within the heart. And so when we talk about SCN5A, sometimes we're talking about slow heart rates that require pacemakers, atrial fibrillation, cardiomyopathy, Brugada syndrome, or a condition called Long QT Syndrome. So it can cause a whole range of different conditions. I think it's important to think about it in that context, which is that the condition in one family member is an indicator that there might be an increased risk for various heart conditions in other family members.
Who should be screened and when?
Who else in the family besides children, should be screened or monitored for the condition?
We usually recommend screening of first degree relatives of somebody in the family who has Brugada Syndrome or was suspected to have had Brugada Syndrome. Males tend to be more commonly affected than females. That doesn't mean women are not affected by it, it's just a statistic, but that's something we know about.
At what age is the screening of first degree relatives recommended?
This is a hard question, and people ask it all the time, but we don't have an answer to that. For people with Brugada Syndrome wondering about kids in their family getting screened, I'll have a conversation with family members and I try not to provoke anxiety. Instead, I usually give some general advice such as letting the child's doctor know that there is a diagnosis of Brugada syndrome in one of the parents and that they may want to consider doing an ECG or evaluating them over time.
I think when children are very young, given how rare it is for children to have Brugada Syndrome symptoms, we don't feel so strongly that people need to rush out and get tested or screened for it. But when they start to enter their teenage years, that's a time when we start to feel a little more strongly about that recommendation.
It's a bit of a balance with an individual family to make sure that we're not creating too much anxiety by recommending that the children be evaluated urgently. On the other hand, the types of tests that we do or are quite noninvasive, and usually they're limited to an ECG, and maybe an ultrasound of the heart, or a monitor that they wear, and possibly an exercise test.
Have you ever avoided going to the doctor out of fear?