The Great Race

In this photo is my son, Dave, in the center, with friends Mike (left) and Ben (right). Two days ago they participated in a popular annual run, bike and paddle race here in our town. They did a great job and had fun. Here they are recovering from the grueling canoe leg. They called their team "Dead Last" because they didn't do any serious training for the event, and expected to place last. But they didn't! Far from it. They were pleased.

The only time Dave's cardiac condition was an issue had to do with his defibrillator. It's recommended that ICDs be kept away from strong magnetic fields. This race uses a transponder system to accurately log times. This involves wearing a small disk, the size of a coin, that will be activated when the racer runs through a magnetic field. How strong is the field? Would it trigger Dave's ICD? He didn't know and so they simply made sure that the relay person was someone else on the team. Mike, not Dave. Mike met up with the biker, then ran to the canoe, and he and Dave were off.

Brugada Syndrome is more common that you might think.

Brugada Syndrome may be responsible for up to 50% of all sudden deaths that occur in individuals with apparently normal hearts. On the website maintained by the Brugada brothers who first identified the syndrome, they estimate that it may be indicated in somewhere between 4 and 12% of all sudden deaths.

A study of the ECGs of 12,000 non-cardiac patients in a large urban teaching hospital was undertaken to determine how many of them exhibited the classic Brugada Syndrome pattern. The results showed that 52 were found to have ECG patterns specifically consistent with Brugada Syndrome. The authors of this study note that Brugada Syndrome is much more prevalent than previously thought.

To put it into perspective, this means that in a high school with 2,000 students, you might expect that there are 7 students in that population who would test positive for Brugada Syndrome. Sobering information. In a future post, I'll discuss the status of routine ECG screenings of children in our country compared with other industrialized countries.

So if this is true, why haven’t we heard of it more often? Well, it is not a new disease, but it is newly diagnosed. Brugada Syndrome was first identified back in the early nineties by Drs. Josep and Pedro Brugada. It is hereditary, but having the syndrome doesn’t necessarily mean that the patient will be struck down by it. In my husband Jim’s case, he had no memory of anyone in his parents’ families dying young and healthy. It may skip a generation, or the affected relatives may have died of other causes before they might have suffered from a cardiac event brought on by Brugada Syndrome. Unfortunately, the statistics for long term survival of known Brugada patients are not great. The ICD is the only way to be absolutely sure a patient will survive sudden cardiac death.

In instances of young healthy children or adults dying with no explanation, or sudden crib death, or even episodes of fainting that can’t be explained otherwise, the survivors or patients should definitely be screened for Brugada Syndrome.

Because so many physicians in the United States have never encountered Brugada Syndrome, the onus may be on the patient to be diligent about follow-up if any of the circumstances I described above happen in your family. This is such a new syndrome, and the research is ongoing, that it’s possible for a very good physician to simply not be familiar with the disease.

(photo above is of my son Dave and daughter, Jessica, outside the White House lawn in 1990.)

How it all started…

In March of 2004, my sixteen-year-old son, Dave, developed atrial flutter. The only symptom was that he felt “off” for several days, and thought maybe he was coming down with something. When he nearly collapsed after running up a set of stairs, we visited the doctor. Minutes into the exam, his doctor sent us directly to the emergency room. Dave’s ECG (electrocardiograph) showed that his heartbeat was erratic and his pulse was racing. After over 24 hours of drug therapy, during which they administered large doses of digoxin into Dave hoping to correct the heart rhythm, the decision was made to shock his heart back into normal sinus rhythm via cardioversion and he was released from the hospital with a prescription for digoxin.

The cardiologists told us that Dave was a healthy teenager, and his heart was strong and normal. They were at a loss to explain why it spontaneously developed an arrhythmia. But the digoxin, to help prevent further occurrences, and follow-up visits, reassured us and Dave went home and picked up life exactly where he’d left off three days earlier.

Six months later, during his follow-up visit, the doctor noticed a unique wave pattern in Dave’s ECG. We learned that day the Dave most likely had Brugada Syndrome. It's rare, and isn’t usually associated with cardiac arrhythmias or flutters. How fortunate we were, that Dave was under the care of cardiologists with the skill to notice this elusive condition. The gave us sobering news: if Dave did have Brugada Syndrome, he was at risk of experiencing sudden cardiac death at any time.

The cardiologist sent us home to spend an anxiety-filled week waiting for there to be a space and time available for Dave's electrophysiology study.

Brugada Syndrome is usually confirmed during an electrophysiology study (EP study) in which a catheter is threaded from a large vein in the groin to the heart. Here electrical activity can be studied and any arrhythmias can be mapped. The ventricle (lower chamber) is then prodded into fibrillation in a controlled setting. A healthy heart will not go into fibrillation. Another method that can be employed is to introduce certain drugs to stimulate fibrillation.

Dave went through the EP study, which confirmed his diagnosis. Before we had begun to absorb what was happening, he was scheduled for next day surgery to have an ICD (implantable cardioverter defibrillator) installed. This seems like a drastic step to take because the surgery is invasive and the ICD is costly. But we learned that there is no cure for Brugada Syndrome. The ICD will shock Dave’s heart back into sinus rythym if he has a Brugada event. Since Dave was at risk of sudden cardiac death, the choice here was simple. His ICD is the only assurance we have that Dave will survive such an event. At the top of this post is a picture of Dave taking a photo of his incision site the day he returned home from the hospital with his ICD.

The story doesn’t end here. Brugada Syndrome is hereditary. Our whole family was tested, and blood drawn for genetic study. My daughter and I showed no characteristic waves in our ECG strips, but Dave’s father, Jim, was found to have the syndrome. He, too, endured the EP study, and the subsequent surgery to have an ICD implanted. During the EP study was able to have an existing atrial arrhythmia condition treated successfully through a procedure called cardiac ablation, and this was good.

The doctor told my daughter that because her genetic make-up is identical to her brother's, she should have a new ECG strip run every now and then and sent to him for review just in case. Another confounding element of Brugada Syndrome is that is doesn't present in an ECG every time, it may appear and disappear over a person's lifetime.

Welcome to this blog about Brugada Syndrome.

Brugada Syndrome is a serious medical condition that causes sudden cardiac death in apparently healthy individuals. Sudden death is caused by severe disturbances in the rhythm of the heart.

Here you will learn more about Brugada Syndrome, including what should be done if someone you know might be at risk of having this syndrome. You will also learn my family's story and how we came to know so much about a condition that most people, and some doctors, don't recognize.